46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | |
| fr | Syndrome de dysgénésie gonadique 46,XY-neuropathie motrice et sensitive | |
| de | 46,XY-Gonadendysgenesie mit motorisch-sensorischer Neuropathie | XY-Gonadendysgenesie - minifaszikuläre Neuropathie |
| es | Síndrome de disgenesia gonadal 46 XY-neuropatía sensitivo-motora | Síndrome de disgenesia gonadal 46 XY-neuropatía minifascicular |
| it | Disgenesia gonadica 46,XY - neuropatia sensitivo-motoria | |
| nl | 46,XY gonadale dysgenesie - motorische en sensorische neuropathie | |
| pt | Síndrome de disgenesia gonadal 46,XY-neuropatia sensitiva e motora | |
| pl | 46,XY dysgenezja gonad - ruchowa i czuciowa neuropatia | |
| cs | Syndrom zahrnující 46 XY gonadální dysgenezi a motorickou a senzorickou neuropatii | |
| uk | Синдром 46,XY дисгенезії гонад-моторної та сенсорної нейропатії | |
| zh | 46，XY性腺发育不全 - 运动和感觉神经病综合征 | |
| tr | 46, XY gonadal disgenezi-motor ve duyusal nöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607080 | E | validated | |
| ICD-10 | Q56.1 | BTNT | attributed | validated |
| ICD-11 | LD2A.1 | NTBT | index | validated |
| MONDO | 0011766 | E | validated | |
| UMLS | C5190810 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHH | Disease-causing germline mutation(s) in | Assessed | HGNC:2865 | ENSG00000139549 | 605423 | 12q13.12 | desert hedgehog signaling molecule | 11017805[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22209139[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22209139[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2016-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003130 | Abnormal peripheral myelination | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0045010 | Abnormality of peripheral nerves | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003409 | Distal sensory impairment of all modalities | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0008723 | Gonadal dysgenesis with female appearance, male | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000789 | Infertility | |
| HP:0000026 | Male hypogonadism | |
| HP:0001271 | Polyneuropathy | |
| HP:0000786 | Primary amenorrhea | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003434 | Sensory ataxic neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0010464 | Streak ovary | |
| HP:0008715 | Testicular dysgenesis | |
| Occasional (29-5%) | ||
| HP:0000150 | Gonadoblastoma | |
| HP:0001761 | Pes cavus | |
| HP:0003376 | Steppage gait | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17768021[PMID]_17768021[PMID]_10483790[PMID]_11891836[PMID]_7076870[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168563
- This record as JSON: /data/d/168563.json