{"Name":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","DiseaseID__c":"GARD:0017034","id":17034,"encodedName":"46xy-gonadal-dysgenesis-motor-and-sensory-neuropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","Xref_IDs__c":"C5436061; C567773; DOID:0051055; MEDGEN:1727162; MONDO:0011766; OMIM:607080; ORPHA:168563","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:168563","Disease_Description__c":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.","GARD_Name__c":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","GARD_Synonym__c":"46,xy gonadal dysgenesis with minifascicular neuropathy; 46xy gonadal dysgenesis with minifascicular neuropathy","Curated_Disease_Description_Source__c":"ORPHA:168563","Curated_Disease_Description__c":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:168563","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011766","ORPHANET_ID__c":"ORPHA:168563","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disgenesia gonadal 46 xy-neuropatía sensitivo-motora","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disgenesia gonadal 46 xy-neuropatía sensitivo-motora","Spanish_GARD_Synonym__c":"síndrome de disgenesia gonadal 46 xy-neuropatía minifascicular","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.","Curated_Disease_Description_Source__c":"ORPHA:168563","GARD_Synonym__c":"46,xy gonadal dysgenesis with minifascicular neuropathy; 46xy gonadal dysgenesis with minifascicular neuropathy","Name":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:168563"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168563"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1547","Source__c":"Gene Review","Xref__c":"NBK1547"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1727162","Source__c":"C5436061","Xref__c":"MEDGEN:1727162"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567773","Source__c":"MONDO:0011766","Xref__c":"C567773"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5436061","Source__c":"C5436061","Xref__c":"C5436061"},{"URL__c":"https://www.orpha.net/en/disease/detail/168563","Source__c":"C5436061; MONDO:0011766","Xref__c":"ORPHA:168563"},{"URL__c":"https://www.omim.org/entry/607080","Source__c":"C5436061; MONDO:0011766; ORPHA:168563","Xref__c":"OMIM:607080"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051055","Source__c":"MONDO:0011766","Xref__c":"DOID:0051055"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011766","Source__c":"GARD:0017034","Xref__c":"MONDO:0011766"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dhh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below normal concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008214","HPO_Synonym__c":"Decreased serum estradiol","HPO_Name__c":"Decreased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010464","HPO_Name__c":"Streak ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003409","HPO_Synonym__c":"Distal sensory loss to all modalities","HPO_Name__c":"Distal sensory impairment of all modalities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the female external genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000055","HPO_Synonym__c":"Abnormal female external genitalia; Abnormality of female external genitalia","HPO_Name__c":"Abnormal female external genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000150","HPO_Name__c":"Gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of a specific peripheral nerve","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045010","HPO_Name__c":"Abnormal peripheral nerve morphology by anatomical site","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003130","HPO_Name__c":"Abnormal peripheral myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008723","HPO_Name__c":"Gonadal dysgenesis with female appearance, male","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003134","HPO_Synonym__c":"Sensory and motor nerve conduction abnormalities","HPO_Name__c":"Abnormality of peripheral nerve conduction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000142","HPO_Synonym__c":"Vaginal malformation","HPO_Name__c":"Abnormal vagina morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000133","HPO_Synonym__c":"Mixed gonadal dysgenesis; Pure gonadal dysgenesis","HPO_Name__c":"Gonadal dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000013","HPO_Synonym__c":"Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus","HPO_Name__c":"Hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003434","HPO_Name__c":"Sensory ataxic neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008733","HPO_Synonym__c":"Dysplastic testes","HPO_Name__c":"Dysplastic testis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["46,xy gonadal dysgenesis with minifascicular neuropathy"," 46xy gonadal dysgenesis with minifascicular neuropathy"]}