MCID: MLP006
MIFTS: 22

Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

MalaCards integrated aliases for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

Name: Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 57
Verloes Gillerot Fryns Syndrome 19 71
Verloes-Gillerot-Fryns Syndrome 19 58
Verloes Syndrome 57 19
Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 19
Male Pseudohermaphroditism-Mental Retardation Syndrome, Verloes Type 71
Disorder of Sex Development-Intellectual Disability Syndrome 58
Disorder of Sex Development Intellectual Disability 19

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Disorder of Sex Development-Intellectual Disability Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Disorder of Sex Development-Intellectual Disability Syndrome: Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
x-linked inheritance possible


Classifications:

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


External Ids:

OMIM® 57 600122
ICD10 via Orphanet 32 Q56.3
UMLS via Orphanet 72 C2931233
Orphanet 58 ORPHA2983
MedGen 40 C1838611
UMLS 71 C1838611 C2931233

Summaries for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

GARD: 19 A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.

MalaCards based summary: Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type, also known as verloes gillerot fryns syndrome, is related to van maldergem syndrome and van maldergem syndrome 1. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and kyphosis

Orphanet: 58 A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.

More information from OMIM: 600122

Related Diseases for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Diseases related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 11.3
2 van maldergem syndrome 1 11.0

Symptoms & Phenotypes for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Human phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

58 30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 kyphosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002808
3 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
4 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
5 microtia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008551
6 genu valgum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002857
7 short thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010306
8 reduced bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004349
9 wide intermamillary distance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006610
10 low posterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002162
11 downturned corners of mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002714
12 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
13 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
14 short philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000322
15 spina bifida occulta 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003298
16 hypoplasia of penis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008736
17 thin vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000233
18 synophrys 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000664
19 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
20 severe sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008625
21 small scrotum 30 Hallmark (90%) HP:0000046
22 coarse facial features 30 HP:0000280
23 absent speech 30 HP:0001344
24 postnatal growth retardation 30 HP:0008897
25 obesity 30 HP:0001513
26 chorioretinal coloboma 30 HP:0000567
27 abnormality of the face 58 Very frequent (99-80%)
28 male pseudohermaphroditism 30 HP:0000037
29 abnormal hair pattern 58 Very frequent (99-80%)
30 scrotal hypoplasia 58 Very frequent (99-80%)
31 narrow palpebral fissure 30 HP:0045025
32 cervical spina bifida 30 HP:0005857
33 bilateral microphthalmos 30 HP:0007633

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Neck:
short neck
low posterior hairline
lateral neck webbing

Skin Nails Hair Hair:
low posterior hairline

Skeletal Spine:
cervical spina bifida

Head And Neck Eyes:
deep-set eyes
coloboma of choroid
small eyes
temporal displacement of maculae

Growth Other:
postnatal growth deficiency

Growth Weight:
obesity

Genitourinary External Genitalia Male:
male pseudohermaphroditism
sexual ambiguity

Head And Neck Face:
coarse facies

Neurologic Central Nervous System:
mental retardation, mild to profound
no speech development (in some patients)

Head And Neck Ears:
sensorineural hearing loss, severe

Clinical features from OMIM®:

600122 (Updated 24-Oct-2022)

Drugs & Therapeutics for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Search Clinical Trials, NIH Clinical Center for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Genetic Tests for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Anatomical Context for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Organs/tissues related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

MalaCards : Eye, Bone

Publications for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Articles related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

# Title Authors PMID Year
1
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type. 57
8031539 1994
2
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? 57
2098045 1990

Variations for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Expression for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Search GEO for disease gene expression data for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type.

Pathways for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

GO Terms for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Sources for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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