MCID: PNS014
MIFTS: 22

Penis Agenesis

Categories: Rare diseases

Aliases & Classifications for Penis Agenesis

MalaCards integrated aliases for Penis Agenesis:

Name: Penis Agenesis 53
Micropenis 53 29 55 6
Agenesis of the Penis 53
Penis Agenesia 53

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 isolated micropenis. The drugs Testosterone enanthate and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary and testes.

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 56)
# Related Disease Score Top Affiliating Genes
1 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.6
2 isolated micropenis 12.2
3 microcephaly micropenis convulsions 12.1
4 pseudovaginal perineoscrotal hypospadias 11.7
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 10.9
12 ritscher-schinzel syndrome 1 10.9
13 mental retardation, x-linked, syndromic, nascimento type 10.9
14 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.9
15 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.9
16 orofaciodigital syndrome xiv 10.9
17 kleefstra syndrome 10.9
18 syndromic x-linked intellectual disability nascimento type 10.9
19 leydig cell hypoplasia 10.9
20 pituitary stalk interruption syndrome 10.9
21 ring chromosome 7 10.9
22 x-linked lissencephaly with abnormal genitalia 10.9
23 hypogonadism 10.3
24 anorchia 10.2
25 growth hormone deficiency 10.2
26 hypospadias 10.1
27 microcephaly 10.0
28 pseudohermaphroditism 10.0
29 hypopituitarism 10.0
30 acrocallosal syndrome 9.9
31 anus, imperforate 9.9
32 charge syndrome 9.9
33 cryptorchidism, unilateral or bilateral 9.9
34 duodenal atresia 9.9
35 coats disease 9.9
36 fryns microphthalmia syndrome 9.9
37 polydactyly 9.9
38 alpha-thalassemia 9.9
39 holoprosencephaly 9.9
40 thalassemia 9.9
41 robinow syndrome 9.9
42 inguinal hernia 9.9
43 myelomeningocele 9.9
44 epilepsy 9.9
45 kallmann syndrome 9.9
46 situs inversus 9.9
47 polyhydramnios 9.9
48 fundus dystrophy 9.9
49 hypoglycemia 9.9
50 chromosome 12q duplication 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 enanthate Approved 315-37-7 9416
2
Testosterone Approved, Investigational 58-22-0 6013
3
Methyltestosterone Approved 58-18-4 6010
4
Testosterone undecanoate Approved, Investigational 5949-44-0
5 Testosterone 17 beta-cypionate
6 Hormone Antagonists
7 Antineoplastic Agents, Hormonal
8 Hormones
9 Androgens
10 Anabolic Agents
11 Hormones, Hormone Substitutes, and Hormone Antagonists

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 29

Anatomical Context for Penis Agenesis

MalaCards organs/tissues related to Penis Agenesis:

41
Pituitary, Testes

Publications for Penis Agenesis

Articles related to Penis Agenesis:

(show top 50) (show all 70)
# 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
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? ( 23824919 )
2013
11
Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review. ( 23981815 )
2013
12
Penile growth in response to hormone treatment in children with micropenis. ( 24235789 )
2013
13
Micropenis: etiology, diagnosis and treatment approaches. ( 24379029 )
2013
14
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis. ( 24575553 )
2013
15
High prevalence of micropenis in 2710 male newborns from an intensive-use pesticide area of Northeastern Brazil. ( 22372605 )
2012
16
Therapeutic strategies for patients with micropenis or penile dysmorphic disorder. ( 22890302 )
2012
17
Isolated 'idiopathic' micropenis: hidden genetic defects? ( 21535007 )
2011
18
Micropenis. ( 21805015 )
2011
19
When size matters: a clinical review of pathological micropenis. ( 20620849 )
2010
20
Case 2: Hypoglycemia and micropenis in the newborn - hormonal red flags. ( 20808475 )
2009
21
Prevalence of micropenis among boys from different regions of Bulgaria. ( 17849741 )
2007
22
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
23
Effect of penile size on nocturnal erections: evaluation with NPTR testing with men having micropenis. ( 15690064 )
2005
24
Gender dysphoria and gender change in androgen insensitivity or micropenis. ( 16010464 )
2005
25
The androgen insensitive micropenis: long-term follow-up into adulthood. ( 15379413 )
2004
26
Outcome studies among men with micropenis. ( 15379414 )
2004
27
Topical testosterone treatment in idiopathic micropenis. ( 16450457 )
2004
28
Penile hemodynamics in hypogonadal men with micropenis. ( 12597961 )
2003
29
Penis agenesis associated with mental retardation: a case report. ( 12549651 )
2002
30
Micropenis: an animal model and its human correlates. ( 12575755 )
2002
31
Complete phalloplasty using the free radial forearm flap for correcting micropenis associated with vesical exstrophy. ( 11458075 )
2001
32
Should the definition of micropenis vary according to ethnicity? ( 11805431 )
2001
33
Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. ( 11815721 )
2001
34
The child with micropenis. ( 10932967 )
2000
35
Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. ( 10228293 )
1999
36
Should boys with micropenis be reared as girls? ( 10228285 )
1999
37
Three cases of congenital growth hormone deficiency with micropenis and hypospadias: what does growth hormone have to do with it? ( 10352401 )
1999
38
Rathke's cleft cyst as a cause of growth hormone deficiency and micropenis. ( 10392501 )
1999
39
Micropenis and apparent micropenis--a diagnostic and therapeutic challenge. ( 10643516 )
1999
40
Micropenis in hypogonadotropic hypogonadism: response of the penile androgen receptor to testosterone treatment. ( 9719275 )
1998
41
Characterization of penile androgen receptor expression in micropenis due to hypogonadotropic hypogonadism. ( 9719279 )
1998
42
Sexual function in boys born with exstrophy, myelomeningocele, and micropenis. ( 9671861 )
1998
43
Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy. ( 8738628 )
1996
44
Micropenis secondary to growth hormone deficiency: does treatment with growth hormone alone result in adequate penile growth? ( 8648808 )
1996
45
Micropenis: does early treatment with testosterone do more harm than good? ( 7609189 )
1995
46
Hypopituitarism with invisible pituitary stalk: two case reports of males with micropenis suggesting fetal onset of hypopituitarism. ( 7889112 )
1994
47
Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome? ( 7529662 )
1994
48
Micropenis: medical and surgical implications. ( 8201683 )
1994
49
Micropenis and congenital adrenal hypoplasia. ( 2910322 )
1989
50
Mutually gratifying heterosexual relationship with micropenis of husband. ( 3264586 )
1988

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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