MCID: KLL013
MIFTS: 13

Kallmann Syndrome-Heart Disease Syndrome

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Kallmann Syndrome-Heart Disease Syndrome

MalaCards integrated aliases for Kallmann Syndrome-Heart Disease Syndrome:

Name: Kallmann Syndrome-Heart Disease Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
kallmann syndrome-heart disease syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Kallmann Syndrome-Heart Disease Syndrome

MalaCards based summary : Kallmann Syndrome-Heart Disease Syndrome Affiliated tissues include heart, and related phenotypes are hypogonadotrophic hypogonadism and intellectual disability

Related Diseases for Kallmann Syndrome-Heart Disease Syndrome

Symptoms & Phenotypes for Kallmann Syndrome-Heart Disease Syndrome

Human phenotypes related to Kallmann Syndrome-Heart Disease Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000044
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 total anosmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010632
4 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
5 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
8 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
9 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
10 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
11 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
12 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
13 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
14 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
15 double outlet right ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0001719
16 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
17 renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000104
18 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
19 pulmonary artery hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0004971
20 short lingual frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000200
21 partial anosmia 58 31 frequent (33%) Frequent (79-30%) HP:0010633
22 anomalous origin of left coronary artery from the pulmonary artery 58 31 frequent (33%) Frequent (79-30%) HP:0011638
23 right aortic arch 58 31 frequent (33%) Frequent (79-30%) HP:0012020
24 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
25 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
26 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
27 midgut malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005211
28 pulmonary insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0010444
29 growth delay 58 Frequent (79-30%)

Drugs & Therapeutics for Kallmann Syndrome-Heart Disease Syndrome

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome-Heart Disease Syndrome

Genetic Tests for Kallmann Syndrome-Heart Disease Syndrome

Anatomical Context for Kallmann Syndrome-Heart Disease Syndrome

MalaCards organs/tissues related to Kallmann Syndrome-Heart Disease Syndrome:

40
Heart

Publications for Kallmann Syndrome-Heart Disease Syndrome

Variations for Kallmann Syndrome-Heart Disease Syndrome

Expression for Kallmann Syndrome-Heart Disease Syndrome

Search GEO for disease gene expression data for Kallmann Syndrome-Heart Disease Syndrome.

Pathways for Kallmann Syndrome-Heart Disease Syndrome

GO Terms for Kallmann Syndrome-Heart Disease Syndrome

Sources for Kallmann Syndrome-Heart Disease Syndrome

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
Content
Loading form....