MCID: RTN215
MIFTS: 12

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 54
Retinitis Pigmentosa-Intellectual Disability-Sensorineural Hearing Loss-Hypogenitalism Syndrome 54
Retinitis Pigmentosa-Intellectual Disability- Labyrinthine Deafness-Hypogenitalism Syndrome 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Retinitis Pigmentosa-Intellectual...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3085Disease definitionRetinitis 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 11.7

Symptoms & Phenotypes for Retinitis Pigmentosa-Intellectual...

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

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

42
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
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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