GDMN
MCID: 46X083
MIFTS: 33

46,xy Gonadal Dysgenesis with Minifascicular Neuropathy (GDMN)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

MalaCards integrated aliases for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:

Name: 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 57
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29 6 39
Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy 73
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 58
46xy Gonadal Dysgenesis with Minifascicular Neuropathy 57
Gdmn 57
Pgd 73

Characteristics:

Orphanet epidemiological data:

58
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
46xx individuals have normal ovarian development and function
dysgenetic gonads of 46xy individuals at high risk for neoplasm


HPO:

31
46,xy gonadal dysgenesis with minifascicular neuropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

UniProtKB/Swiss-Prot : 73 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 with Minifascicular Neuropathy, also known as 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy, is related to cutaneous leishmaniasis and visceral leishmaniasis. An important gene associated with 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis, uterus and skeletal muscle, 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 with Minifascicular Neuropathy

Diseases related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 cutaneous leishmaniasis 11.1
2 visceral leishmaniasis 11.1
3 glucosephosphate dehydrogenase deficiency 11.0
4 leishmaniasis 11.0
5 46,xy partial gonadal dysgenesis 11.0
6 6-phosphogluconolactonase deficiency 10.9
7 melnick-needles syndrome 10.9
8 6-phosphogluconate dehydrogenase deficiency 10.9
9 infertility 10.3
10 muscular dystrophy 10.2
11 chromosomal triplication 10.2
12 cystic fibrosis 10.2
13 myotonic dystrophy 10.1
14 down syndrome 10.1
15 tuberous sclerosis 10.1
16 fragile x syndrome 10.0
17 muscular dystrophy, duchenne type 10.0
18 huntington disease 10.0
19 tuberous sclerosis 1 10.0
20 lipoid congenital adrenal hyperplasia 10.0
21 familial adenomatous polyposis 10.0
22 male infertility 10.0
23 neurofibromatosis 10.0
24 47,xyy 10.0
25 fibrosis of extraocular muscles, congenital, 1 9.9
26 nondisjunction 9.9
27 muscular dystrophy, becker type 9.9
28 ataxia and polyneuropathy, adult-onset 9.9
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
30 autosomal recessive disease 9.9
31 polycystic kidney disease 9.9
32 hypogonadotropic hypogonadism 9.9
33 spinal muscular atrophy 9.9
34 diamond-blackfan anemia 9.9
35 lactic acidosis 9.9
36 muscular atrophy 9.9
37 autosomal dominant polycystic kidney disease 9.9
38 hemophilia 9.9
39 fmr1 disorders 9.9
40 partial deletion of y 9.9
41 pik3ca-related overgrowth syndrome 9.9
42 acrocephalopolysyndactyly type iii 9.7
43 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 9.7
44 charcot-marie-tooth disease, demyelinating, type 1a 9.7
45 factor viii deficiency 9.7
46 holt-oram syndrome 9.7
47 li-fraumeni syndrome 9.7
48 marfan syndrome 9.7
49 facioscapulohumeral muscular dystrophy 1 9.7
50 myotonic dystrophy 1 9.7

Graphical network of the top 20 diseases related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy:



Diseases related to 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

Symptoms & Phenotypes for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0003134
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
4 primary amenorrhea 58 31 very rare (1%) Very frequent (99-80%) HP:0000786
5 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
6 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
7 abnormality of female external genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000055
8 polyneuropathy 58 31 very rare (1%) Very frequent (99-80%) HP:0001271
9 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
10 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
11 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
12 streak ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010464
13 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000013
14 testicular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008715
15 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
16 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
17 abnormal peripheral myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0003130
18 sensory ataxic neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003434
19 distal sensory loss of all modalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0006984
20 gonadal dysgenesis with female appearance, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0008723
21 abnormal vagina morphology 31 hallmark (90%) HP:0000142
22 gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000150
23 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
24 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
25 gonadal dysgenesis 58 31 very rare (1%) Very frequent (99-80%) HP:0000133
26 hyporeflexia 31 very rare (1%) HP:0001265
27 hypergonadotropic hypogonadism 31 very rare (1%) HP:0000815
28 decreased number of peripheral myelinated nerve fibers 31 very rare (1%) HP:0003380
29 impaired distal tactile sensation 31 very rare (1%) HP:0006937
30 impaired distal vibration sensation 31 very rare (1%) HP:0006886
31 abnormality of the vagina 58 Very frequent (99-80%)
32 abnormality of peripheral nerves 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
muscle weakness
muscle cramps with exercise (in some patients)
peroneal wasting (in some patients)
wasting of small muscles of hands and feet (in some patients)

Genitourinary External Genitalia Female:
infantile- or normal-appearing female genitalia (in 46xy individuals)

Genitourinary Internal Genitalia Female:
primary amenorrhea (in 46xy individuals)
blind vaginal pouch (in 46xy individuals)
hypoplastic or absent uterus (in 46xy individuals)
streak gonads, unilateral or bilateral (in 46xy individuals)
fallopian tube may be observed (in 46xy individuals)

Skin Nails Hair Nails:
pigmentation of the nails (in some patents)

Neurologic Peripheral Nervous System:
distal paresthesias/dysesthesias
sensorimotor polyneuropathy, mixed axonal and demyelinating
reduced or absent deep tendon reflexes
reduced compound muscle action potentials
reduced or absent sensory nerve action potentials
more
Chest Breasts:
little to no breast development (in 46xy individuals)

Genitourinary Internal Genitalia Male:
dysgenetic gonad, unilateral or bilateral (in 46xy individuals)
seminiferous tubules (in 46xy individuals)
sertoli cells (in 46xy individuals)
germ cells (in 46xy individuals)
epididymal tissue (in 46xy individuals)
more
Skin Nails Hair Skin:
ulceration of toes (in some patients)
plantar hyperkeratosis (in some patients)

Skin Nails Hair Hair:
sparse or absent pubic hair (in 46xy individuals)

Endocrine Features:
elevated follicle-stimulating hormone (in 46xy individuals)
elevated luteinizing hormone (in 46xy individuals)
very low to undetectable estradiol (in 46xy individuals)
very low to undetectable testosterone (in 46xy individuals)
very low to undetectable inhibin b (in 46xy individuals)

Clinical features from OMIM®:

607080 (Updated 05-Mar-2021)

Drugs & Therapeutics for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

Genetic Tests for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

Genetic tests related to 46,xy Gonadal Dysgenesis 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 with Minifascicular Neuropathy

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

40
Testis, Uterus, Skeletal Muscle, Ovary, Breast, Placenta

Publications for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

(show all 20)
# Title Authors PMID Year
1
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review. 6 57
29471294 2018
2
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 6 57
28708305 2017
3
Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH. 6 57
28589169 2017
4
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. 6 57
25927242 2015
5
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. 57 6
11891836 2002
6
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 6 57
11017805 2000
7
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. 57
10483790 1999
8
Study of gadolinium substitution effects in hexagonal yttrium manganite YMnO3. 61
33536490 2021
9
Enhanced catalytic activity of oxygenated VOC deep oxidation on highly active in-situ generated GdMn2O5/GdMnO3 catalysts. 61
32531553 2020
10
High-Pressure Synthesis, Structures, and Properties of Trivalent A-Site-Ordered Quadruple Perovskites RMn7O12 (R = Sm, Eu, Gd, and Tb). 61
29722530 2018
11
Tailoring of magnetic orderings in Fe substituted GdMnO3 bulk samples towards room temperature. 61
28718778 2017
12
GdmRIII, a TetR Family Transcriptional Regulator, Controls Geldanamycin and Elaiophylin Biosynthesis in Streptomyces autolyticus CGMCC0516. 61
28684749 2017
13
GDM-Induced Macrosomia Is Reversed by Cav-1 via AMPK-Mediated Fatty Acid Transport and GLUT1-Mediated Glucose Transport in Placenta. 61
28125642 2017
14
7-O-descarbamoyl-7-hydroxygeldanamycin, a minor component from the gdmN disruption mutant of Streptomyces hygroscopicus 17997. 61
20683449 2010
15
The magnetic order of GdMn₂Ge₂ studied by neutron diffraction and x-ray resonant magnetic scattering. 61
21393756 2010
16
Synthesis, structure, and magnetic properties of Na3LnMn3O3(AsO4)3 (Ln = La, Sm, and Gd): a new 3d-4f series exhibiting one-dimensional manganese(III) oxide chains connected via LnO9 units. 61
19639985 2009
17
[Roles of geldanamycin biosynthetic genes in Streptomyces hygroscopicus 17997]. 61
18837385 2008
18
A new post-PKS modification process in the carbamoyltransferase gene inactivation strain of Streptomyces hygroscopicus 17997. 61
18667782 2008
19
The LuxR family members GdmRI and GdmRII are positive regulators of geldanamycin biosynthesis in Streptomyces hygroscopicus 17997. 61
18214443 2008
20
[Cloning and analysis of geldanamycin partial biosynthetic gene cluster of Streptomyces hygroscopicus 17997]. 61
17168310 2006

Variations for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHH NM_021044.4(DHH):c.2T>C (p.Met1Thr) SNV Pathogenic 5010 rs104894346 12:49488294-49488294 12:49094511-49094511
2 DHH NM_021044.4(DHH):c.304-572_492dup Duplication Pathogenic 981234 12:49484983-49484984 12:49091200-49091201
3 DHH NM_021044.4(DHH):c.519G>T (p.Trp173Cys) SNV Pathogenic 981235 12:49484957-49484957 12:49091174-49091174
4 DHH NM_021044.4(DHH):c.554C>A (p.Ser185Ter) SNV Pathogenic 981236 12:49484922-49484922 12:49091139-49091139
5 DHH NM_021044.4(DHH):c.371G>A (p.Arg124Gln) SNV Pathogenic 560406 rs1565573892 12:49485105-49485105 12:49091322-49091322

Expression for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

Search GEO for disease gene expression data for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy.

Pathways for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

GO Terms for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

Sources for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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