PGD
MCID: 46X053
MIFTS: 30

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 57 29 6 40
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 57 13
Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy 75
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 59
Pgd 75

Characteristics:

Orphanet epidemiological data:

59
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 : 75 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). Affiliated tissues include testis, ovary and skeletal muscle, 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 57)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 11.5
2 cutaneous leishmaniasis 11.3
3 visceral leishmaniasis 11.3
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 ventricular fibrillation, paroxysmal familial, 1 10.3
10 myotonic dystrophy 10.1
11 myotonia atrophica 10.1
12 fragile x syndrome 10.0
13 myotonic dystrophy 1 10.0
14 cystic fibrosis 10.0
15 factor viii deficiency 9.8
16 holt-oram syndrome 9.8
17 marfan syndrome 9.8
18 ovarian cancer 9.8
19 spinocerebellar ataxia 2 9.8
20 down syndrome 9.8
21 chondrodysplasia punctata syndrome 9.8
22 netherton syndrome 9.8
23 ceroid lipofuscinosis, neuronal, 1 9.8
24 hemophilia a 9.8
25 heterotaxy, visceral, 1, x-linked 9.8
26 incontinentia pigmenti 9.8
27 mucopolysaccharidosis, type ii 9.8
28 brittle bone disorder 9.8
29 cervical cancer 9.8
30 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
31 glycogen storage disease 9.8
32 familial adenomatous polyposis 9.8
33 nonsyndromic deafness 9.8
34 recessive dystrophic epidermolysis bullosa 9.8
35 polycystic kidney disease 9.8
36 hypogonadotropic hypogonadism 9.8
37 open-angle glaucoma 9.8
38 coronary artery vasospasm 9.8
39 autosomal dominant cerebellar ataxia 9.8
40 gonadal dysgenesis 9.8
41 neuronal ceroid lipofuscinosis 9.8
42 gaucher's disease 9.8
43 dyskeratosis congenita 9.8
44 epidermolysis bullosa 9.8
45 lynch syndrome 9.8
46 infertility 9.8
47 kidney disease 9.8
48 autosomal dominant polycystic kidney disease 9.8
49 viral infectious disease 9.8
50 hemophilia 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...

Clinical features from OMIM:

607080

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 59 32 hallmark (90%) Very frequent (99-80%) HP:0003134
2 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
3 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000837
4 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
5 gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000150
6 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
7 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
8 male hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000026
9 decreased serum testosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0040171
10 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
11 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
12 abnormality of female external genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000055
13 hypoplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000013
14 gonadal dysgenesis 59 32 Very frequent (99-80%) HP:0000133
15 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
16 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
17 abnormal peripheral myelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003130
18 steppage gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0003376
19 sensory ataxic neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003434
20 distal sensory loss of all modalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0006984
21 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
22 testicular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008715
23 gonadal dysgenesis with female appearance, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0008723
24 streak ovary 59 32 hallmark (90%) Very frequent (99-80%) HP:0010464
25 abnormality of the vagina 59 Very frequent (99-80%)
26 abnormality of peripheral nerves 59 Very frequent (99-80%)
27 gonadal dysgenesis, male 32 HP:0008668
28 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
29 abnormal vagina morphology 32 hallmark (90%) HP:0000142

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:

41
Testis, Ovary, Skeletal Muscle, Uterus, Kidney, Bone, Breast

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

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_021044.3(DHH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894346 GRCh37 Chromosome 12, 49488294: 49488294
2 DHH NM_021044.3(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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