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 58 30 6 41
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 58 13
Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy 76
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 60
Pgd 76

Characteristics:

Orphanet epidemiological data:

60
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



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

UniProtKB/Swiss-Prot : 76 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 6-phosphogluconate dehydrogenase deficiency and cutaneous leishmaniasis. An important gene associated with 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis, kidney and ovary, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy

Description 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 82)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 11.6
2 cutaneous leishmaniasis 11.4
3 visceral leishmaniasis 11.4
4 sleeping sickness 11.3
5 glucosephosphate dehydrogenase deficiency 11.3
6 6-phosphogluconolactonase deficiency 11.2
7 leishmaniasis 11.2
8 46,xy partial gonadal dysgenesis 11.1
9 fragile x syndrome 10.1
10 myotonic dystrophy 10.1
11 myotonia atrophica 10.1
12 cystic fibrosis 10.0
13 myotonic dystrophy 1 10.0
14 muscular dystrophy, duchenne type 10.0
15 spinal muscular atrophy 10.0
16 muscular atrophy 10.0
17 muscular dystrophy 10.0
18 breast cancer 9.8
19 diabetes mellitus, noninsulin-dependent 9.8
20 factor viii deficiency 9.8
21 holt-oram syndrome 9.8
22 huntington disease 9.8
23 marfan syndrome 9.8
24 ovarian cancer 9.8
25 spinocerebellar ataxia 2 9.8
26 down syndrome 9.8
27 chondrodysplasia punctata syndrome 9.8
28 glycogen storage disease iv 9.8
29 netherton syndrome 9.8
30 ceroid lipofuscinosis, neuronal, 1 9.8
31 body mass index quantitative trait locus 11 9.8
32 hemophilia a 9.8
33 heterotaxy, visceral, 1, x-linked 9.8
34 incontinentia pigmenti 9.8
35 mucopolysaccharidosis, type ii 9.8
36 body mass index quantitative trait locus 8 9.8
37 brittle bone disorder 9.8
38 cervical cancer 9.8
39 meningioma, familial 9.8
40 body mass index quantitative trait locus 10 9.8
41 body mass index quantitative trait locus 7 9.8
42 body mass index quantitative trait locus 14 9.8
43 beta-thalassemia 9.8
44 body mass index quantitative trait locus 18 9.8
45 lymphatic malformation 7 9.8
46 mucopolysaccharidosis-plus syndrome 9.8
47 body mass index quantitative trait locus 19 9.8
48 epidermolysis bullosa dystrophica 9.8
49 glycogen storage disease 9.8
50 thalassemia 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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 60 33 hallmark (90%) Very frequent (99-80%) HP:0003134
2 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
3 increased circulating gonadotropin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0000837
4 primary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786
5 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
6 male hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000026
7 decreased serum testosterone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0040171
8 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
9 abnormality of female external genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000055
10 hypoplasia of the uterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000013
11 polyneuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001271
12 distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002460
13 abnormal peripheral myelination 60 33 hallmark (90%) Very frequent (99-80%) HP:0003130
14 sensory ataxic neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003434
15 distal sensory loss of all modalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0006984
16 sensorimotor neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007141
17 decreased serum estradiol 60 33 hallmark (90%) Very frequent (99-80%) HP:0008214
18 testicular dysgenesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008715
19 gonadal dysgenesis with female appearance, male 60 33 hallmark (90%) Very frequent (99-80%) HP:0008723
20 streak ovary 60 33 hallmark (90%) Very frequent (99-80%) HP:0010464
21 abnormal vagina morphology 33 hallmark (90%) HP:0000142
22 gonadoblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000150
23 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
24 steppage gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0003376
25 gonadal dysgenesis 60 33 Very frequent (99-80%) HP:0000133
26 abnormality of the vagina 60 Very frequent (99-80%)
27 abnormality of peripheral nerves 60 Very frequent (99-80%)
28 gonadal dysgenesis, male 33 HP:0008668
29 decreased number of peripheral myelinated nerve fibers 33 HP:0003380

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 30 DHH

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

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

42
Testis, Kidney, Ovary, Skeletal Muscle, Uterus, Bone

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

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

# Title Authors Year
1
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. ( 11017805 )
2000

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DHH NM_021044.4(DHH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894346 GRCh37 Chromosome 12, 49488294: 49488294
2 DHH NM_021044.4(DHH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894346 GRCh38 Chromosome 12, 49094511: 49094511
3 DHH NM_021044.4(DHH): c.371G> A (p.Arg124Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 49091322: 49091322
4 DHH NM_021044.4(DHH): c.371G> A (p.Arg124Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 49485105: 49485105

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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