MCID: MNT146
MIFTS: 30

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Categories: Mental diseases, Ear diseases, Neuronal diseases, Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Name: Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 53 12 71 28 13
Martin-Probst Deafness-Mental Retardation Syndrome 53 71 69
Deafness-Intellectual Disability, Martin-Probst Type Syndrome 12 14
Martin-Probst Syndrome 12 55
Mrxsmp 53 71
Deafness-Intellectual Disability Syndrome, Martin-Probst Type 55
X-Linked Deafness-Intellectual Disability Syndrome Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
deafness-intellectual disability syndrome, martin-probst type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
three males in 1 family have been reported (last curated august 2012)


HPO:

31
mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot : 71 Mental retardation, X-linked, syndromic, Martin-Probst type: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Martin-Probst Type, also known as martin-probst deafness-mental retardation syndrome, is related to choroideremia and branchiootic syndrome 1, and has symptoms including malar flattening, low-set ears and hypothyroidism. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include skin and kidney.

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has material basis in variation on the X chromosome.

Description from OMIM: 300519

Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choroideremia 10.4
2 branchiootic syndrome 1 10.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 sensorineural hearing loss 10.2

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
telecanthus
epicanthal folds
myopia (in 2 of 3 siblings)

Head And Neck Teeth:
dental malocclusion
abnormal teeth

Head And Neck Face:
micrognathia
malar hypoplasia

Head And Neck Nose:
broad nasal root

Neurologic Central Nervous System:
mental retardation, mild to severe

Head And Neck Head:
microcephaly (in 2 of 3 siblings)

Genitourinary Internal Genitalia Male:
cryptorchidism (in 1 of 3 siblings)
absence of the vas deferens and epididymis (in 1 of 3 siblings)

Skin Nails Hair Skin:
telangiectasias

Hematology:
pancytopenia (in 2 of 3 siblings)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural, severe to profound

Abdomen External Features:
umbilical hernia

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Head And Neck Mouth:
broad mouth
full lower lip

Growth Height:
short stature (in 2 of 3 siblings)

Genitourinary External Genitalia Male:
bifid scrotum (in 1 of 3 siblings)
small phallus (in 1 of 3 siblings)

Genitourinary Kidneys:
hypoplastic kidneys (in 2 of 3 siblings)
proteinuria (in 2 of 3 siblings)
renal insufficiency (in 2 of 3 siblings)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)


Clinical features from OMIM:

300519

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 hypothyroidism 55 31 occasional (7.5%) Frequent (79-30%) HP:0000821
4 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
5 dental malocclusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000689
6 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
8 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
9 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
10 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
11 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
12 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
13 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
14 pancytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001876
15 thick lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000179
16 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
17 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
18 cryptorchidism 55 31 occasional (7.5%) Frequent (79-30%) HP:0000028
19 wide intermamillary distance 55 31 hallmark (90%) Very frequent (99-80%) HP:0006610
20 aplasia/hypoplasia of the nipples 55 31 hallmark (90%) Very frequent (99-80%) HP:0006709
21 abnormal dermatoglyphics 55 31 hallmark (90%) Very frequent (99-80%) HP:0007477
22 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
23 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
24 intellectual disability, moderate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002342
25 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
26 telangiectasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0100585
27 renal hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000089
28 hypoplasia of penis 55 31 frequent (33%) Frequent (79-30%) HP:0008736
29 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
30 bifid scrotum 55 31 occasional (7.5%) Frequent (79-30%) HP:0000048
31 renal dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000110
32 hypertelorism 31 HP:0000316
33 intellectual disability 31 HP:0001249
34 abnormality of the dentition 55 Very frequent (99-80%)
35 proteinuria 31 frequent (33%) HP:0000093
36 hypoplastic nipples 31 HP:0002557
37 micropenis 31 occasional (7.5%) HP:0000054
38 telangiectasia 31 HP:0001009

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 28

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

38
Skin, Kidney

Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

# Title Authors Year
1
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ( 18487380 )
2008

Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

71
# Symbol AA change Variation ID SNP ID
1 RAB40AL p.Asp59Gly VAR_068916 rs145606134

Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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