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GDMN
MCID: 46X083
MIFTS: 28
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46,xy Gonadal Dysgenesis with Minifascicular Neuropathy (GDMN)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:
Characteristics:Inheritance:
46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:
Autosomal recessive 57
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome:
Autosomal recessive 58
Prevelance:
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
46xx individuals have normal ovarian development and function dysgenetic gonads of 46xy individuals at high risk for neoplasm Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Reproductive diseases Endocrine diseases Neuronal diseases Muscle diseases
ICD10:
32
Orphanet: 58
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 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. MalaCards based summary: 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy, is also known as 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome. An important gene associated with 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis, uterus and ovary, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity.
More information from OMIM:
607080
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Human phenotypes related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:58 30 (show all 34)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:607080 (Updated 08-Dec-2022) |
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Organs/tissues related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:
MalaCards :
Testis,
Uterus,
Ovary,
Skeletal Muscle,
Breast,
Placenta
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Articles related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:(show all 23)
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Genes related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:5
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Search
GEO
for disease gene expression data for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy.
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