PGD
MCID: 46X053
MIFTS: 29
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46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (PGD)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:
Characteristics:Orphanet epidemiological data:58
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Reproductive diseases Endocrine diseases Neuronal diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Partial gonadal dysgenesis with minifascicular neuropathy 46,XY: Characterized by 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.
MalaCards based summary : 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy, also known as 46xy partial gonadal dysgenesis, with minifascicular neuropathy, is related to cutaneous leishmaniasis and visceral leishmaniasis. An important gene associated with 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis, skeletal muscle and ovary, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy
More information from OMIM:
607080
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Human phenotypes related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:58 31 (show all 29)
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MalaCards organs/tissues related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:40
Testis,
Skeletal Muscle,
Ovary,
Uterus
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Articles related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:
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ClinVar genetic disease variations for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:6
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Search
GEO
for disease gene expression data for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy.
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