46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁶ ²⁹ ⁶ ³⁹

46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ⁵⁶ ¹³

Partial Gonadal Dysgenesis with Minifascicular Neuropathy 46,xy ⁷³

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

Pgd ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Indeterminate sex and pseudohermaphroditism

Male pseudohermaphroditism, not elsewhere classified

Orphanet: ⁵⁸

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 607080

ICD10 via Orphanet ³³ Q56.1

UMLS via Orphanet ⁷² C2751325

Orphanet ⁵⁸ ORPHA168563

MedGen ⁴¹ C2751325

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

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, 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, skeletal muscle and ovary, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy

More information from OMIM: 607080

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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 149)

#	Related Disease	Score
1	cutaneous leishmaniasis	11.4
2	visceral leishmaniasis	11.4
3	sleeping sickness	11.3
4	glucosephosphate dehydrogenase deficiency	11.3
5	leishmaniasis	11.3
6	46,xy partial gonadal dysgenesis	11.3
7	6-phosphogluconolactonase deficiency	11.2
8	6-phosphogluconate dehydrogenase deficiency	11.2
9	muscular dystrophy	10.3
10	chromosomal triplication	10.3
11	cystic fibrosis	10.3
12	infertility	10.3
13	down syndrome	10.2
14	tuberous sclerosis	10.2
15	myotonic dystrophy	10.2
16	fragile x syndrome	10.1
17	muscular dystrophy, duchenne type	10.1
18	huntington disease	10.1
19	tuberous sclerosis 1	10.1
20	lipoid congenital adrenal hyperplasia	10.1
21	familial adenomatous polyposis	10.1
22	male infertility	10.1
23	neurofibromatosis	10.1
24	47,xyy	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	hypogonadotropic hypogonadism	10.0
33	spinal muscular atrophy	10.0
34	diamond-blackfan anemia	10.0
35	optic nerve disease	10.0
36	lactic acidosis	10.0
37	familial retinoblastoma	10.0
38	muscular atrophy	10.0
39	autosomal dominant polycystic kidney disease	10.0
40	hemophilia	10.0
41	fmr1 disorders	10.0
42	partial deletion of y	10.0
43	pik3ca-related overgrowth syndrome	10.0
44	acrocephalopolysyndactyly type iii	9.8
45	atherosclerosis susceptibility	9.8
46	charcot-marie-tooth disease, demyelinating, type 1a	9.8
47	holt-oram syndrome	9.8
48	li-fraumeni syndrome	9.8
49	marfan syndrome	9.8
50	facioscapulohumeral muscular dystrophy 1	9.8

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

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

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

⁵⁸ ³¹ (show all 29)

#	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	hallmark (90%)	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	hallmark (90%)	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 frequent (99-80%)	HP:0000133
26	abnormality of the vagina ⁵⁸		Very frequent (99-80%)
27	gonadal dysgenesis, male ³¹			HP:0008668
28	decreased number of peripheral myelinated nerve fibers ³¹			HP:0003380
29	abnormality of peripheral nerves ⁵⁸		Very frequent (99-80%)

Clinical features from OMIM:

607080

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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

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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

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

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

⁴⁰

Testis, Skeletal Muscle, Ovary, Uterus

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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. ⁵⁶ ⁶	Umehara F...Osame M	11017805	2000
2	Nonsyndromic Disorders of Testicular Development ⁶	Mohnach L...Keegan CE	20301714	2008
3	Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. ⁵⁶	Sugie K...Umehara F	11891836	2002
4	Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. ⁵⁶	Umehara F...Osame M	10483790	1999

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

Genes related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	1358.67	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	11017805 20301714

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

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

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DHH	NM_021044.4(DHH):c.371G>A (p.Arg124Gln)	SNV	Pathogenic	560406	rs1565573892	12:49485105-49485105	12:49091322-49091322
2	DHH	NM_021044.4(DHH):c.2T>C (p.Met1Thr)	SNV	Pathogenic	5010	rs104894346	12:49488294-49488294	12:49094511-49094511

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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.

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

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

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⁷¹ UMLS

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⁷⁴ Wikipedia

46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (PGD)

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

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

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Clinical features from OMIM:

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

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

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

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

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

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

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

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

Genes related to 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (1 elite genes):

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

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

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

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

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

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