PGD
MCID: 46X053
MIFTS: 29

46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (PGD)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

MalaCards integrated aliases for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

Name: 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 56 29 6 39
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 56 13
Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy 73
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 58
Pgd 73

Characteristics:

Orphanet epidemiological data:

58
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

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

Related Diseases for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Diseases related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 cutaneous leishmaniasis 11.4
2 visceral leishmaniasis 11.4
3 sleeping sickness 11.3
4 glucosephosphate dehydrogenase deficiency 11.3
5 leishmaniasis 11.3
6 46,xy partial gonadal dysgenesis 11.3
7 6-phosphogluconolactonase deficiency 11.2
8 6-phosphogluconate dehydrogenase deficiency 11.2
9 muscular dystrophy 10.3
10 chromosomal triplication 10.3
11 cystic fibrosis 10.3
12 infertility 10.3
13 down syndrome 10.2
14 tuberous sclerosis 10.2
15 myotonic dystrophy 10.2
16 fragile x syndrome 10.1
17 muscular dystrophy, duchenne type 10.1
18 huntington disease 10.1
19 tuberous sclerosis 1 10.1
20 lipoid congenital adrenal hyperplasia 10.1
21 familial adenomatous polyposis 10.1
22 male infertility 10.1
23 neurofibromatosis 10.1
24 47,xyy 10.1
25 nondisjunction 10.0
26 retinoblastoma 10.0
27 muscular dystrophy, becker type 10.0
28 ataxia and polyneuropathy, adult-onset 10.0
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0
30 autosomal recessive disease 10.0
31 polycystic kidney disease 10.0
32 hypogonadotropic hypogonadism 10.0
33 spinal muscular atrophy 10.0
34 diamond-blackfan anemia 10.0
35 optic nerve disease 10.0
36 lactic acidosis 10.0
37 familial retinoblastoma 10.0
38 muscular atrophy 10.0
39 autosomal dominant polycystic kidney disease 10.0
40 hemophilia 10.0
41 fmr1 disorders 10.0
42 partial deletion of y 10.0
43 pik3ca-related overgrowth syndrome 10.0
44 acrocephalopolysyndactyly type iii 9.8
45 atherosclerosis susceptibility 9.8
46 charcot-marie-tooth disease, demyelinating, type 1a 9.8
47 holt-oram syndrome 9.8
48 li-fraumeni syndrome 9.8
49 marfan syndrome 9.8
50 facioscapulohumeral muscular dystrophy 1 9.8

Graphical network of the top 20 diseases related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:



Diseases related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy

Symptoms & Phenotypes for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Human phenotypes related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0003134
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
4 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
5 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
6 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
7 abnormality of female external genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000055
8 polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001271
9 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
10 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
11 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
12 streak ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010464
13 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000013
14 testicular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008715
15 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
16 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
17 abnormal peripheral myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0003130
18 sensory ataxic neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003434
19 distal sensory loss of all modalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0006984
20 gonadal dysgenesis with female appearance, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0008723
21 abnormal vagina morphology 31 hallmark (90%) HP:0000142
22 gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000150
23 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
24 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
25 gonadal dysgenesis 58 31 Very frequent (99-80%) HP:0000133
26 abnormality of the vagina 58 Very frequent (99-80%)
27 gonadal dysgenesis, male 31 HP:0008668
28 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
29 abnormality of peripheral nerves 58 Very frequent (99-80%)

Clinical features from OMIM:

607080

Drugs & Therapeutics for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Search Clinical Trials , NIH Clinical Center for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy

Genetic Tests for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Genetic tests related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

# Genetic test Affiliating Genes
1 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29 DHH

Anatomical Context for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

MalaCards organs/tissues related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

40
Testis, Skeletal Muscle, Ovary, Uterus

Publications for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Articles related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

# Title Authors PMID Year
1
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 56 6
11017805 2000
2
Nonsyndromic Disorders of Testicular Development 6
20301714 2008
3
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. 56
11891836 2002
4
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. 56
10483790 1999

Variations for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

ClinVar genetic disease variations for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHH NM_021044.4(DHH):c.371G>A (p.Arg124Gln)SNV Pathogenic 560406 rs1565573892 12:49485105-49485105 12:49091322-49091322
2 DHH NM_021044.4(DHH):c.2T>C (p.Met1Thr)SNV Pathogenic 5010 rs104894346 12:49488294-49488294 12:49094511-49094511

Expression for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Search GEO for disease gene expression data for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy.

Pathways for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

GO Terms for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

Sources for 46,xy Gonadal Dysgenesis, Partial, with Minifascicular...

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