MCID: RTN215
MIFTS: 14

Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa-Intellectual...

MalaCards integrated aliases for Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome:

Name: Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 52
Retinitis Pigmentosa-Intellectual Disability-Sensorineural Hearing Loss-Hypogenitalism Syndrome 52
Retinitis Pigmentosa-Intellectual Disability- Labyrinthine Deafness-Hypogenitalism Syndrome 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Retinitis Pigmentosa-Intellectual...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3085 Definition Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans , secondary cataracts , neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive . It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Visit the Orphanet disease page for more resources.

MalaCards based summary : Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome, also known as retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome, is related to retinitis pigmentosa, deafness, mental retardation, and hypogonadism. Affiliated tissues include ovary and skin, and related phenotypes are nystagmus and intellectual disability

Related Diseases for Retinitis Pigmentosa-Intellectual...

Diseases related to Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.8

Symptoms & Phenotypes for Retinitis Pigmentosa-Intellectual...

Human phenotypes related to Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 hallmark (90%) HP:0000639
2 intellectual disability 31 hallmark (90%) HP:0001249
3 type ii diabetes mellitus 31 hallmark (90%) HP:0005978
4 short stature 31 hallmark (90%) HP:0004322
5 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
6 abnormality of retinal pigmentation 31 hallmark (90%) HP:0007703
7 acanthosis nigricans 31 hallmark (90%) HP:0000956
8 hyperinsulinemia 31 hallmark (90%) HP:0000842
9 hypergonadotropic hypogonadism 31 hallmark (90%) HP:0000815
10 decreased testicular size 31 hallmark (90%) HP:0008734
11 gynecomastia 31 hallmark (90%) HP:0000771
12 obesity 31 frequent (33%) HP:0001513
13 coarse facial features 31 frequent (33%) HP:0000280
14 cataract 31 frequent (33%) HP:0000518
15 delayed skeletal maturation 31 frequent (33%) HP:0002750
16 brachydactyly 31 frequent (33%) HP:0001156
17 cryptorchidism 31 frequent (33%) HP:0000028
18 visual impairment 31 frequent (33%) HP:0000505
19 dry skin 31 frequent (33%) HP:0000958
20 secondary amenorrhea 31 frequent (33%) HP:0000869
21 short toe 31 frequent (33%) HP:0001831
22 keloids 31 frequent (33%) HP:0010562
23 broad foot 31 frequent (33%) HP:0001769
24 kyphosis 31 occasional (7.5%) HP:0002808
25 hyperlordosis 31 occasional (7.5%) HP:0003307
26 polycystic ovaries 31 occasional (7.5%) HP:0000147
27 cerebellar atrophy 31 occasional (7.5%) HP:0001272

Drugs & Therapeutics for Retinitis Pigmentosa-Intellectual...

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome

Genetic Tests for Retinitis Pigmentosa-Intellectual...

Anatomical Context for Retinitis Pigmentosa-Intellectual...

MalaCards organs/tissues related to Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome:

40
Ovary, Skin

Publications for Retinitis Pigmentosa-Intellectual...

Variations for Retinitis Pigmentosa-Intellectual...

Expression for Retinitis Pigmentosa-Intellectual...

Search GEO for disease gene expression data for Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome.

Pathways for Retinitis Pigmentosa-Intellectual...

GO Terms for Retinitis Pigmentosa-Intellectual...

Sources for Retinitis Pigmentosa-Intellectual...

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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