MCID: HYP667
MIFTS: 16

Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Categories: Endocrine diseases, Eye diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

MalaCards integrated aliases for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome:

Name: Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 58 29
Chang-Davidson-Carlson Syndrome 58
Chang Davidson Carlson Syndrome 70

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

UMLS via Orphanet 71 C2931722
Orphanet 58 ORPHA2235
UMLS 70 C2931722

Summaries for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

MalaCards based summary : Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome, is also known as chang-davidson-carlson syndrome. Affiliated tissues include eye, breast and ovary, and related phenotypes are rod-cone dystrophy and pigmentary retinopathy

Related Diseases for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Human phenotypes related to Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome:

58 31 (showing 23, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rod-cone dystrophy 58 31 obligate (100%) Obligate (100%) HP:0000510
2 pigmentary retinopathy 58 31 obligate (100%) Obligate (100%) HP:0000580
3 hypogonadotropic hypogonadism 31 obligate (100%) HP:0000044
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
8 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
9 breast hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003187
10 hypoplasia of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0008724
11 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
12 secondary growth hormone deficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008240
13 reduced circulating prolactin concentration 31 hallmark (90%) HP:0008202
14 hypothalamic gonadotropin-releasing hormone deficiency 31 hallmark (90%) HP:0003164
15 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
18 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
19 reduced bone mineral density 58 Frequent (79-30%)
20 hypogonadotrophic hypogonadism 58 Obligate (100%)
21 anterior hypopituitarism 58 Very frequent (99-80%)
22 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 58 Very frequent (99-80%)
23 prolactin deficiency 58 Very frequent (99-80%)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Genetic Tests for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Genetic tests related to Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 29

Anatomical Context for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome:

40
Eye, Breast, Ovary, Bone

Publications for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Variations for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Expression for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome.

Pathways for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

GO Terms for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

Sources for Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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