MCID: RTN071
MIFTS: 20

Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism

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

Aliases & Classifications for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

MalaCards integrated aliases for Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism:

Name: Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 56
Insulin-Resistant Diabetes with Acanthosis Nigricans, Hypogonadism, Pigmentary Retinopathy, Deafness, and Mental Retardation 56
Retinitis Pigmentosa-Intellectual Disability-Sensorineural Hearing Loss-Hypogenitalism Syndrome 58
Retinitis Pigmentosa-Intellectual Disability- Labyrinthine Deafness-Hypogenitalism Syndrome 58
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa, deafness, mental retardation, and hypogonadism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

MalaCards based summary : Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism, also known as insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation, is related to retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome. Affiliated tissues include ovary, eye and skin, and related phenotypes are intellectual disability and nystagmus

More information from OMIM: 268020

Related Diseases for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Diseases related to Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.8

Symptoms & Phenotypes for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Human phenotypes related to Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 Very frequent (99-80%) HP:0000639
3 coarse facial features 58 31 Frequent (79-30%) HP:0000280
4 short stature 58 31 Very frequent (99-80%) HP:0004322
5 acanthosis nigricans 58 31 Very frequent (99-80%) HP:0000956
6 dry skin 58 31 Frequent (79-30%) HP:0000958
7 secondary amenorrhea 58 31 Frequent (79-30%) HP:0000869
8 hypergonadotropic hypogonadism 58 31 Very frequent (99-80%) HP:0000815
9 polycystic ovaries 58 31 Occasional (29-5%) HP:0000147
10 gynecomastia 58 31 Very frequent (99-80%) HP:0000771
11 cerebellar atrophy 58 31 Occasional (29-5%) HP:0001272
12 broad foot 58 31 Frequent (79-30%) HP:0001769
13 obesity 58 Frequent (79-30%)
14 kyphosis 58 Occasional (29-5%)
15 hyperlordosis 58 Occasional (29-5%)
16 cataract 58 Frequent (79-30%)
17 delayed skeletal maturation 58 Frequent (79-30%)
18 type ii diabetes mellitus 58 Very frequent (99-80%)
19 brachydactyly 58 Frequent (79-30%)
20 rod-cone dystrophy 31 HP:0000510
21 cryptorchidism 58 Frequent (79-30%)
22 sensorineural hearing impairment 58 Very frequent (99-80%)
23 visual impairment 58 Frequent (79-30%)
24 abnormality of retinal pigmentation 58 Very frequent (99-80%)
25 elevated hepatic transaminase 31 HP:0002910
26 hyperinsulinemia 58 Very frequent (99-80%)
27 short toe 58 Frequent (79-30%)
28 decreased testicular size 58 Very frequent (99-80%)
29 keloids 58 Frequent (79-30%)
30 sparse hair 31 HP:0008070
31 broad palm 31 HP:0001169
32 cerebral atrophy 31 HP:0002059
33 insulin-resistant diabetes mellitus 31 HP:0000831
34 abnormality of the ear 31 HP:0000598
35 pigmentary retinopathy 31 HP:0000580
36 subcapsular cataract 31 HP:0000523

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
pigmentary retinopathy
subcapsular cataracts

Skin Nails Hair Skin:
acanthosis nigricans
dry skin

Genitourinary Internal Genitalia Female:
polycystic ovaries

Neurologic:
cerebellar atrophy
cerebral atrophy
mental retardation

Head And Neck Face:
coarse facies

Skeletal Hands:
broad hands

Head And Neck Ears:
labyrinthine deafness

Growth Height:
short stature

Endocrine Features:
secondary amenorrhea
hypergonadotropic hypogonadism
insulin-resistant diabetes

Chest Breasts:
gynecomastia

Skin Nails Hair Hair:
sparse hair

Skeletal Feet:
broad feet

Laboratory Abnormalities:
hyperinsulinism
mildly elevated transaminases
decreased insulin receptor binding

Abdomen Liver:
increased echogenicity

Clinical features from OMIM:

268020

Drugs & Therapeutics for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism

Genetic Tests for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Anatomical Context for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

MalaCards organs/tissues related to Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism:

40
Ovary, Eye, Skin

Publications for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Articles related to Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism:

# Title Authors PMID Year
1
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. 56
8456839 1993
2
A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. 56
1251844 1976

Variations for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Expression for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Search GEO for disease gene expression data for Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism.

Pathways for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

GO Terms for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

Sources for Retinitis Pigmentosa, Deafness, Mental Retardation, and...

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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