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 57 29 6 40
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 57 13
Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy 74
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 59
Pgd 74

Characteristics:

Orphanet epidemiological data:

59
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 57 607080
ICD10 via Orphanet 34 Q56.1
UMLS via Orphanet 73 C2751325
Orphanet 59 ORPHA168563
MedGen 42 C2751325

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

UniProtKB/Swiss-Prot : 74 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, ovary and uterus, 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 158)
# Related Disease Score Top Affiliating Genes
1 cutaneous leishmaniasis 11.5
2 visceral leishmaniasis 11.5
3 sleeping sickness 11.4
4 glucosephosphate dehydrogenase deficiency 11.4
5 6-phosphogluconolactonase deficiency 11.3
6 leishmaniasis 11.3
7 6-phosphogluconate dehydrogenase deficiency 11.3
8 46,xy partial gonadal dysgenesis 11.3
9 infertility 10.3
10 muscular dystrophy 10.3
11 chromosomal triplication 10.3
12 cystic fibrosis 10.3
13 down syndrome 10.2
14 tuberous sclerosis 10.2
15 myotonic dystrophy 10.2
16 myotonia atrophica 10.2
17 fragile x syndrome 10.1
18 muscular dystrophy, duchenne type 10.1
19 huntington disease 10.1
20 neurofibromatosis, type iv, of riccardi 10.1
21 tuberous sclerosis 1 10.1
22 lipoid congenital adrenal hyperplasia 10.1
23 familial adenomatous polyposis 10.1
24 male infertility 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 spinal muscular atrophy 10.0
33 diamond-blackfan anemia 10.0
34 optic nerve disease 10.0
35 lactic acidosis 10.0
36 familial retinoblastoma 10.0
37 muscular atrophy 10.0
38 autosomal dominant polycystic kidney disease 10.0
39 hemophilia 10.0
40 47,xyy 10.0
41 47, xxy 10.0
42 acute respiratory distress syndrome 10.0
43 partial deletion of y 10.0
44 pik3ca-related overgrowth syndrome 10.0
45 acrocephalopolysyndactyly type iii 9.8
46 atherosclerosis susceptibility 9.8
47 charcot-marie-tooth disease, demyelinating, type 1a 9.8
48 factor viii deficiency 9.8
49 holt-oram syndrome 9.8
50 li-fraumeni syndrome 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:

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

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. 8 71
11017805 2000
2
Nonsyndromic Disorders of Testicular Development 71
20301714 2008
3
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. 8
11891836 2002
4
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. 8
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DHH NM_021044.4(DHH): c.371G> A (p.Arg124Gln) single nucleotide variant Pathogenic 12:49485105-49485105 12:49091322-49091322
2 DHH NM_021044.4(DHH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic 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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10 dbSNP
11 DGIdb
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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