Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
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
Genes Variations Tissues Related diseases Symptoms & Phenotypes
Sources

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

About this section

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

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

About this section
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
Sources

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

About this section

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
Sources

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

About this section

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
Sources

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

About this section

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

Sources

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

About this section

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
Sources

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

About this section

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

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

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

About this section
Sources

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

About this section

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
Sources

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

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

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

About this section
Sources

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

About this section
Sources

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

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....