MCID: 46X053
MIFTS: 29

46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases, Neuronal 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 cutaneous leishmaniasis and visceral 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 all 49)
# Related Disease Score Top Affiliating Genes
1 cutaneous leishmaniasis 11.2
2 visceral leishmaniasis 11.2
3 sleeping sickness 11.1
4 glucosephosphate dehydrogenase deficiency 11.1
5 6-phosphogluconolactonase deficiency 11.0
6 6-phosphogluconate dehydrogenase deficiency 11.0
7 46,xy partial gonadal dysgenesis 11.0
8 fragile x syndrome 9.9
9 aging 9.9
10 myotonic dystrophy 9.9
11 myotonia atrophica 9.9
12 myotonic dystrophy 1 9.8
13 cystic fibrosis 9.8
14 breast cancer 9.7
15 holt-oram syndrome 9.7
16 ovarian cancer 9.7
17 spinocerebellar ataxia 2 9.7
18 netherton syndrome 9.7
19 ceroid lipofuscinosis, neuronal, 1 9.7
20 heterotaxy, visceral, 1, x-linked 9.7
21 incontinentia pigmenti 9.7
22 mucopolysaccharidosis, type ii 9.7
23 cervical cancer 9.7
24 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
25 glycogen storage disease 9.7
26 familial adenomatous polyposis 9.7
27 nonsyndromic deafness 9.7
28 recessive dystrophic epidermolysis bullosa 9.7
29 hypogonadotropic hypogonadism 9.7
30 open-angle glaucoma 9.7
31 arachnoiditis 9.7
32 autosomal dominant cerebellar ataxia 9.7
33 neuronal ceroid lipofuscinosis 9.7
34 gaucher's disease 9.7
35 cervicitis 9.7
36 dyskeratosis congenita 9.7
37 epidermolysis bullosa 9.7
38 lynch syndrome 9.7
39 infertility 9.7
40 kidney disease 9.7
41 neuronitis 9.7
42 autosomal dominant polycystic kidney disease 9.7
43 heterotaxy 9.7
44 polycystic kidney disease 9.7
45 fetal edema 9.7
46 hydrops fetalis 9.7
47 glycogen storage disease due to glycogen branching enzyme deficiency 9.7
48 endotheliitis 9.7
49 46 xy gonadal dysgenesis 9.0 DHH LOC105369759

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 28)
# 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 abnormality of the vagina 59 32 hallmark (90%) Very frequent (99-80%) HP:0000142
12 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
13 abnormality of female external genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000055
14 hypoplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000013
15 gonadal dysgenesis 59 32 Very frequent (99-80%) HP:0000133
16 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
17 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
18 abnormal peripheral myelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003130
19 steppage gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0003376
20 sensory ataxic neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003434
21 distal sensory loss of all modalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0006984
22 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
23 testicular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008715
24 gonadal dysgenesis with female appearance, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0008723
25 streak ovary 59 32 hallmark (90%) Very frequent (99-80%) HP:0010464
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

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

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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....