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 58
Male Pseudohermaphroditism-Mental Retardation Syndrome, Verloes Type 74
Disorder of Sex Development-Intellectual Disability Syndrome 60
Verloes Gillerot Fryns Syndrome 74
Verloes-Gillerot-Fryns Syndrome 60
Verloes Syndrome 58

Characteristics:

Orphanet epidemiological data:

60
disorder of sex development-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
x-linked inheritance possible


HPO:

33
male pseudohermaphroditism/mental retardation syndrome, verloes type:
Inheritance autosomal recessive inheritance


Classifications:



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 short neck and genu valgum

Description 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 11.6
2 van maldergem syndrome 11.3
3 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:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
5 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
7 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
8 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
9 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
10 low posterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0002162
11 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
12 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
13 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
14 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
15 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
16 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
17 spina bifida occulta 60 33 hallmark (90%) Very frequent (99-80%) HP:0003298
18 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
19 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
20 scrotal hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000046
21 severe sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008625
22 obesity 33 HP:0001513
23 coarse facial features 33 HP:0000280
24 absent speech 33 HP:0001344
25 postnatal growth retardation 33 HP:0008897
26 chorioretinal coloboma 33 HP:0000567
27 abnormality of the face 60 Very frequent (99-80%)
28 abnormal hair pattern 60 Very frequent (99-80%)
29 male pseudohermaphroditism 33 HP:0000037
30 bilateral microphthalmos 33 HP:0007633
31 narrow palpebral fissure 33 HP:0045025
32 cervical spina bifida 33 HP:0005857

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye, Bone

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

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
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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