MCID: MLP006
MIFTS: 21

Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Categories: Endocrine diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

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 56
Male Pseudohermaphroditism-Mental Retardation Syndrome, Verloes Type 71
Disorder of Sex Development-Intellectual Disability Syndrome 58
Verloes Gillerot Fryns Syndrome 71
Verloes-Gillerot-Fryns Syndrome 58
Verloes Syndrome 56

Characteristics:

Orphanet epidemiological data:

58
disorder of sex development-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
x-linked inheritance possible


HPO:

31
male pseudohermaphroditism/mental retardation syndrome, verloes type:
Inheritance autosomal recessive inheritance


Classifications:

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


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

MalaCards based summary : Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type, also known as male pseudohermaphroditism-mental retardation syndrome, verloes type, is related to male pseudohermaphroditism intellectual disability syndrome, verloes type and van maldergem syndrome. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and short neck

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 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.7
2 van maldergem syndrome 11.5
3 van maldergem syndrome 1 11.2

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

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

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

Symptoms via clinical synopsis from OMIM:

56
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

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...

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

40
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. 56
8031539 1994
2
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? 56
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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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