GDMN
MCID: 46X083
MIFTS: 28

46,xy Gonadal Dysgenesis with Minifascicular Neuropathy (GDMN)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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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 73
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome 58 28 5
Gdmn 57 73
46xy Gonadal Dysgenesis with Minifascicular Neuropathy 57

Characteristics:


Inheritance:

46,xy Gonadal Dysgenesis with Minifascicular Neuropathy: Autosomal recessive 57
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome: Autosomal recessive 58

Prevelance:

46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
46xx individuals have normal ovarian development and function
dysgenetic gonads of 46xy individuals at high risk for neoplasm


Classifications:

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


Summaries for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

Orphanet: 58 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

MalaCards based summary: 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy, is also known as 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome. An important gene associated with 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis, uterus and ovary, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include 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.

More information from OMIM: 607080

Related Diseases for 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 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003134
2 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
3 increased circulating gonadotropin level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000837
4 primary amenorrhea 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000786
5 reduced tendon reflexes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001315
6 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
7 abnormality of female external genitalia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000055
8 distal muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002460
9 polyneuropathy 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001271
10 male hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000026
11 decreased serum estradiol 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008214
12 streak ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010464
13 hypoplasia of the uterus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000013
14 testicular dysgenesis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008715
15 sensorimotor neuropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007141
16 abnormal peripheral myelination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003130
17 sensory ataxic neuropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003434
18 gonadal dysgenesis with female appearance, male 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008723
19 distal sensory impairment of all modalities 30 Hallmark (90%) HP:0003409
20 abnormal vagina morphology 30 Hallmark (90%) HP:0000142
21 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
22 gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000150
23 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001761
24 steppage gait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003376
25 gonadal dysgenesis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000133
26 hyporeflexia 30 Very rare (1%) HP:0001265
27 hypergonadotropic hypogonadism 30 Very rare (1%) HP:0000815
28 decreased number of peripheral myelinated nerve fibers 30 Very rare (1%) HP:0003380
29 impaired distal tactile sensation 30 Very rare (1%) HP:0006937
30 impaired distal vibration sensation 30 Very rare (1%) HP:0006886
31 abnormality of the vagina 58 Very frequent (99-80%)
32 decreased serum testosterone level 58 Very frequent (99-80%)
33 distal sensory loss of all modalities 58 Very frequent (99-80%)
34 abnormality of peripheral nerves 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 patients)

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 08-Dec-2022)

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-Motor and Sensory Neuropathy Syndrome 28 DHH

Anatomical Context for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

MalaCards : Testis, Uterus, Ovary, Skeletal Muscle, Breast, Placenta

Publications for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

(show all 23)
# 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. 57 5
29471294 2018
2
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 57 5
28708305 2017
3
Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH. 57 5
28589169 2017
4
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. 57 5
25927242 2015
5
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. 57 5
11891836 2002
6
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 57 5
11017805 2000
7
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. 57
10483790 1999
8
Visualization of Tunable Weyl Line in A-A Stacking Kagome Magnets. 62
36385535 2022
9
Endowing homodimeric carbamoyltransferase GdmN with iterative functions through structural characterization and mechanistic studies. 62
36329057 2022
10
Topologically protected magnetoelectric switching in a multiferroic. 62
35794266 2022
11
Study of gadolinium substitution effects in hexagonal yttrium manganite YMnO3. 62
33536490 2021
12
Enhanced catalytic activity of oxygenated VOC deep oxidation on highly active in-situ generated GdMn2O5/GdMnO3 catalysts. 62
32531553 2020
13
High-Pressure Synthesis, Structures, and Properties of Trivalent A-Site-Ordered Quadruple Perovskites RMn7O12 (R = Sm, Eu, Gd, and Tb). 62
29722530 2018
14
Tailoring of magnetic orderings in Fe substituted GdMnO3 bulk samples towards room temperature. 62
28718778 2017
15
GdmRIII, a TetR Family Transcriptional Regulator, Controls Geldanamycin and Elaiophylin Biosynthesis in Streptomyces autolyticus CGMCC0516. 62
28684749 2017
16
GDM-Induced Macrosomia Is Reversed by Cav-1 via AMPK-Mediated Fatty Acid Transport and GLUT1-Mediated Glucose Transport in Placenta. 62
28125642 2017
17
7-O-descarbamoyl-7-hydroxygeldanamycin, a minor component from the gdmN disruption mutant of Streptomyces hygroscopicus 17997. 62
20683449 2010
18
The magnetic order of GdMn₂Ge₂ studied by neutron diffraction and x-ray resonant magnetic scattering. 62
21393756 2010
19
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. 62
19639985 2009
20
[Roles of geldanamycin biosynthetic genes in Streptomyces hygroscopicus 17997]. 62
18837385 2008
21
A new post-PKS modification process in the carbamoyltransferase gene inactivation strain of Streptomyces hygroscopicus 17997. 62
18667782 2008
22
The LuxR family members GdmRI and GdmRII are positive regulators of geldanamycin biosynthesis in Streptomyces hygroscopicus 17997. 62
18214443 2008
23
[Cloning and analysis of geldanamycin partial biosynthetic gene cluster of Streptomyces hygroscopicus 17997]. 62
17168310 2006

Variations for 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHH NM_021044.4(DHH):c.2T>C (p.Met1Thr) SNV Pathogenic
5010 rs104894346 GRCh37: 12:49488294-49488294
GRCh38: 12:49094511-49094511
2 DHH NM_021044.4(DHH):c.371G>A (p.Arg124Gln) SNV Pathogenic
560406 rs1565573892 GRCh37: 12:49485105-49485105
GRCh38: 12:49091322-49091322
3 DHH NM_021044.4(DHH):c.304-572_492dup DUP Pathogenic
981234 GRCh37: 12:49484983-49484984
GRCh38: 12:49091200-49091201
4 DHH NM_021044.4(DHH):c.519G>T (p.Trp173Cys) SNV Pathogenic
981235 rs1939296210 GRCh37: 12:49484957-49484957
GRCh38: 12:49091174-49091174
5 DHH NM_021044.4(DHH):c.554C>A (p.Ser185Ter) SNV Pathogenic
981236 rs1939295073 GRCh37: 12:49484922-49484922
GRCh38: 12:49091139-49091139

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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