MCID: PNS014
MIFTS: 22

Penis Agenesis

Categories: Rare diseases

Aliases & Classifications for Penis Agenesis

MalaCards integrated aliases for Penis Agenesis:

Name: Penis Agenesis 54
Micropenis 54 30 56 6
Agenesis of the Penis 54
Penis Agenesia 54

Classifications:



Summaries for Penis Agenesis

MalaCards based summary : Penis Agenesis, also known as micropenis, is related to mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome and microcephaly micropenis convulsions. The drugs Testosterone and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include testes and pituitary.

Related Diseases for Penis Agenesis

Diseases related to Penis Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.6
2 microcephaly micropenis convulsions 12.1
3 idiopathic isolated micropenis 12.1
4 pseudovaginal perineoscrotal hypospadias 11.8
5 androgen insensitivity syndrome 11.3
6 androgen insensitivity, partial 11.3
7 hypogonadotropic hypogonadism 11.3
8 5-alpha reductase deficiency 11.3
9 penile agenesis 11.2
10 leydig cell hypoplasia, type i 11.1
11 solitary median maxillary central incisor 11.0
12 ritscher-schinzel syndrome 1 11.0
13 mental retardation, x-linked, syndromic, nascimento type 11.0
14 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.0
15 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.0
16 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.0
17 orofaciodigital syndrome xiv 11.0
18 kleefstra syndrome 11.0
19 syndromic x-linked intellectual disability nascimento type 11.0
20 leydig cell hypoplasia 11.0
21 pituitary stalk interruption syndrome 11.0
22 ring chromosome 7 11.0
23 x-linked lissencephaly with abnormal genitalia 11.0
24 hypogonadism 10.3
25 hypogonadotropism 10.2
26 anorchia 10.2
27 growth hormone deficiency 10.2
28 hypospadias 10.1
29 microcephaly 10.0
30 pseudohermaphroditism 10.0
31 hypopituitarism 10.0
32 acrocallosal syndrome 9.9
33 anus, imperforate 9.9
34 charge syndrome 9.9
35 cryptorchidism, unilateral or bilateral 9.9
36 duodenal atresia 9.9
37 fryns microphthalmia syndrome 9.9
38 polydactyly 9.9
39 alpha-thalassemia 9.9
40 holoprosencephaly 9.9
41 thalassemia 9.9
42 robinow syndrome 9.9
43 inguinal hernia 9.9
44 myelomeningocele 9.9
45 epilepsy 9.9
46 kallmann syndrome 9.9
47 situs inversus 9.9
48 polyhydramnios 9.9
49 fundus dystrophy 9.9
50 hypoglycemia 9.9

Graphical network of the top 20 diseases related to Penis Agenesis:



Diseases related to Penis Agenesis

Symptoms & Phenotypes for Penis Agenesis

Drugs & Therapeutics for Penis Agenesis

Drugs for Penis Agenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 6013 10204
2
Testosterone enanthate Approved 315-37-7 9416
3
Testosterone undecanoate Approved, Investigational 5949-44-0
4
Methyltestosterone Approved 58-18-4 6010
5 Androgens
6 Hormones
7 Antineoplastic Agents, Hormonal
8 Hormone Antagonists
9 Anabolic Agents
10 Hormones, Hormone Substitutes, and Hormone Antagonists
11 Testosterone 17 beta-cypionate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment Completed NCT02034487
2 Establishing Nomograms of Penile Length and Width Throughout the Weeks of Pregnancy Withdrawn NCT01659528

Search NIH Clinical Center for Penis Agenesis

Genetic Tests for Penis Agenesis

Genetic tests related to Penis Agenesis:

# Genetic test Affiliating Genes
1 Micropenis 30

Anatomical Context for Penis Agenesis

MalaCards organs/tissues related to Penis Agenesis:

42
Testes, Pituitary

Publications for Penis Agenesis

Articles related to Penis Agenesis:

(show top 50) (show all 68)
# Title Authors Year
1
Kallmann Syndrome With Micropenis. ( 30219169 )
2018
2
Case 2: 3-month-old Boy with Micropenis. ( 29967081 )
2018
3
Effects of combined growth hormone and testosterone treatments in a rat model of micropenis. ( 30352406 )
2018
4
Is it micropenis? Does size matter? ( 27920045 )
2017
5
Efficacy and Safety of Continuous Subcutaneous Infusion of Recombinant Human Gonadotropins for Congenital Micropenis during Early Infancy
. ( 28081535 )
2017
6
Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis. ( 29176021 )
2017
7
A rare case of penis agenesis (Aphallia) with associated multiple urogenital anomalies. ( 26298242 )
2015
8
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents. ( 26352728 )
2015
9
Human chorionic gonadotrophin (HCG) stimulation test and testosterone response in children with micropenis. ( 25345084 )
2014
10
Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review. ( 23981815 )
2013
11
Penile growth in response to hormone treatment in children with micropenis. ( 24235789 )
2013
12
Micropenis: etiology, diagnosis and treatment approaches. ( 24379029 )
2013
13
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis. ( 24575553 )
2013
14
High prevalence of micropenis in 2710 male newborns from an intensive-use pesticide area of Northeastern Brazil. ( 22372605 )
2012
15
Therapeutic strategies for patients with micropenis or penile dysmorphic disorder. ( 22890302 )
2012
16
Isolated 'idiopathic' micropenis: hidden genetic defects? ( 21535007 )
2011
17
Micropenis. ( 21805015 )
2011
18
When size matters: a clinical review of pathological micropenis. ( 20620849 )
2010
19
Case 2: Hypoglycemia and micropenis in the newborn - hormonal red flags. ( 20808475 )
2009
20
Prevalence of micropenis among boys from different regions of Bulgaria. ( 17849741 )
2007
21
Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->ter-->qter). ( 16865745 )
2006
22
Effect of penile size on nocturnal erections: evaluation with NPTR testing with men having micropenis. ( 15690064 )
2005
23
Gender dysphoria and gender change in androgen insensitivity or micropenis. ( 16010464 )
2005
24
The androgen insensitive micropenis: long-term follow-up into adulthood. ( 15379413 )
2004
25
Outcome studies among men with micropenis. ( 15379414 )
2004
26
Topical testosterone treatment in idiopathic micropenis. ( 16450457 )
2004
27
Penile hemodynamics in hypogonadal men with micropenis. ( 12597961 )
2003
28
Penis agenesis associated with mental retardation: a case report. ( 12549651 )
2002
29
Micropenis: an animal model and its human correlates. ( 12575755 )
2002
30
Complete phalloplasty using the free radial forearm flap for correcting micropenis associated with vesical exstrophy. ( 11458075 )
2001
31
Should the definition of micropenis vary according to ethnicity? ( 11805431 )
2001
32
Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. ( 11815721 )
2001
33
The child with micropenis. ( 10932967 )
2000
34
Three cases of congenital growth hormone deficiency with micropenis and hypospadias: what does growth hormone have to do with it? ( 10352401 )
1999
35
Rathke's cleft cyst as a cause of growth hormone deficiency and micropenis. ( 10392501 )
1999
36
Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. ( 10228293 )
1999
37
Should boys with micropenis be reared as girls? ( 10228285 )
1999
38
Micropenis and apparent micropenis--a diagnostic and therapeutic challenge. ( 10643516 )
1999
39
Micropenis in hypogonadotropic hypogonadism: response of the penile androgen receptor to testosterone treatment. ( 9719275 )
1998
40
Characterization of penile androgen receptor expression in micropenis due to hypogonadotropic hypogonadism. ( 9719279 )
1998
41
Sexual function in boys born with exstrophy, myelomeningocele, and micropenis. ( 9671861 )
1998
42
Micropenis secondary to growth hormone deficiency: does treatment with growth hormone alone result in adequate penile growth? ( 8648808 )
1996
43
Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy. ( 8738628 )
1996
44
Micropenis: does early treatment with testosterone do more harm than good? ( 7609189 )
1995
45
Hypopituitarism with invisible pituitary stalk: two case reports of males with micropenis suggesting fetal onset of hypopituitarism. ( 7889112 )
1994
46
Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome? ( 7529662 )
1994
47
Micropenis: medical and surgical implications. ( 8201683 )
1994
48
Micropenis and congenital adrenal hypoplasia. ( 2910322 )
1989
49
Mutually gratifying heterosexual relationship with micropenis of husband. ( 3264586 )
1988
50
Etiology of isolated congenital micropenis. ( 3131239 )
1987

Variations for Penis Agenesis

Expression for Penis Agenesis

Search GEO for disease gene expression data for Penis Agenesis.

Pathways for Penis Agenesis

GO Terms for Penis Agenesis

Sources for Penis Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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