MCID: FRL002
MIFTS: 25

Froelich Syndrome

Categories: Neuronal diseases
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Aliases & Classifications for Froelich Syndrome

MalaCards integrated aliases for Froelich Syndrome:

Name: Froelich Syndrome 11 14
Froehlich's Syndrome 11 71
Froelich's Syndrome 11 75
Babinski-Froelich Syndrome 11
Adiposogenital Syndrome 11
Froehlich Syndrome 11

Classifications:



External Ids:

Disease Ontology 11 DOID:6676
MeSH 43 D007027
NCIt 49 C34625
SNOMED-CT 68 62999006
ICD10 31 E23.6
UMLS 71 C0016724

Summaries for Froelich Syndrome

Disease Ontology: 11 A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.

MalaCards based summary: Froelich Syndrome, also known as froehlich's syndrome, is related to hypothalamic obesity and myotonic dystrophy 1. An important gene associated with Froelich Syndrome is PCYT1B (Phosphate Cytidylyltransferase 1B, Choline), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include pituitary, hypothalamus and testes.

Wikipedia: 75 Adiposogenital dystrophy is a condition that may be caused by tertiary hypogonadism originating from... more...

Related Diseases for Froelich Syndrome

Diseases related to Froelich Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hypothalamic obesity 11.1
2 myotonic dystrophy 1 10.2
3 central diabetes insipidus 10.1
4 diabetes insipidus 10.1
5 laurence-moon syndrome 10.0
6 craniopharyngioma 10.0
7 bardet-biedl syndrome 1 10.0
8 bardet-biedl syndrome 2 10.0
9 bardet-biedl syndrome 10 10.0
10 bardet-biedl syndrome 11 10.0
11 bardet-biedl syndrome 12 10.0
12 dysostosis 10.0
13 bardet-biedl syndrome 10.0
14 acromegaly 10.0
15 retinal degeneration 10.0
16 meningitis 10.0
17 choline deficiency disease 9.2 SLC44A1 PEMT CHDH

Graphical network of the top 20 diseases related to Froelich Syndrome:



Diseases related to Froelich Syndrome

Symptoms & Phenotypes for Froelich Syndrome

Drugs & Therapeutics for Froelich Syndrome

Search Clinical Trials, NIH Clinical Center for Froelich Syndrome

Genetic Tests for Froelich Syndrome

Anatomical Context for Froelich Syndrome

Organs/tissues related to Froelich Syndrome:

MalaCards : Pituitary, Hypothalamus, Testes, Retina

Publications for Froelich Syndrome

Articles related to Froelich Syndrome:

(show all 29)
# Title Authors PMID Year
1
[Slipped capital femoral epiphysis in an ambulant patient with spastic cerebral palsy. A long-term evolution]. 62
32814930 2020
2
Harvey Cushing and pituitary Case Number 3 (Mary D.): the origin of this most baffling problem in neurosurgery. 62
27364259 2016
3
Slipped upper femoral epiphysis: Outcome after in situ fixation and capital realignment technique. 62
23798757 2013
4
Prepuberal obesity (the adiposogenital syndrome): a transitional object pathology. 62
14655841 1997
5
One century after the description of the "sign": Joseph Babinski and his contribution to neurosurgery. 62
9092856 1997
6
The efficacy of radiotherapy for craniopharyngioma. 62
3989587 1985
7
FROEHLICH'S SYNDROME. 62
14298479 1965
8
[LAURENCE-MOON-BIEDL SYNDROME AND FROEHLICH SYNDROME]. 62
14137044 1964
9
[RESULTS OF THE TREATMENT OF ADIPOSOGENITAL SYNDROME]. 62
14083477 1963
10
[Enchondral dysostosis with adiposogenital syndrome as the leading symptom: demonstrated by a case of Laurence-Moon-Bardet-Biedl syndrome]. 62
13728546 1961
11
[Complex neuroendocrine syndrome. Associated Friedreich-type disease. Aran-Duchenne syndrome and adiposogenital syndrome]. 62
13822791 1960
12
[2 Cases of an endocrine syndrome of central origin: acromegaly and adiposogenital syndrome]. 62
13803246 1959
13
[Adiposogenital syndrome with congenital degeneration of retina and vitreum]. 62
13396557 1956
14
[Study of 65 cases of adiposogenital syndrome]. 62
13351230 1956
15
[Study of 65 cases of adiposogenital syndrome]. 62
13230595 1954
16
Froehlich's syndrome and suprasellar lesions. 62
13060810 1953
17
[Adiposogenital syndrome associated with multiple congenital anomalies]. 62
13120308 1953
18
Craniopharyngioma in a dog with apparent adiposogenital syndrome and diabetes insipidus. 62
12998367 1952
19
[Babinski-Froelich syndrome with grave anemia; from gynoid to android obesity]. 62
13008152 1952
20
Diabetes insipidus and adiposogenital syndrome in a dog due to an infundibuloma. 62
14887341 1951
21
[The electrocardiogram in a case of Froehlich's syndrome]. 62
14901928 1951
22
[Froelich syndrome (craniopharyngioma); report of a case]. 62
14892342 1951
23
[Recurrent meningococcic meningitis with adiposogenital syndrome]. 62
14830534 1951
24
[Transitory adiposogenital syndrome appearing after gas encephalography]. 62
14895177 1951
25
[Atypical adiposogenital syndrome with neuropsychic disorders]. 62
14927039 1951
26
Myotonic dystrophy and Babinski-Froehlich syndrome. 62
18236540 1949
27
On a case of adiposogenital Froelich syndrome secondary to sphenoid perisinusitis treated with multiple hypofisart grafts. 62
18144117 1949
28
Myotonic dystrophy and Babinski-Froehlich syndrome. 62
20342359 1947
29
THE ADULT EQUIVALENT OF THE FROELICH SYNDROME. 62
18739184 1924

Variations for Froelich Syndrome

Expression for Froelich Syndrome

Search GEO for disease gene expression data for Froelich Syndrome.

Pathways for Froelich Syndrome

Pathways related to Froelich Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 SLC44A1 PEMT PCYT1B CHKB CHDH
2
Show member pathways
12.17 SLC44A1 PEMT PCYT1B CHKB
4
Show member pathways
10.95 PEMT CHKB
5
Show member pathways
10.71 SLC44A1 CHDH
6 10.64 PEMT CHDH
7 10.58 PEMT CHKB
8 10.37 SLC44A1 PEMT PCYT1B CHKB

GO Terms for Froelich Syndrome

Biological processes related to Froelich Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CDP-choline pathway GO:0006657 9.56 PCYT1B CHKB
2 choline catabolic process GO:0042426 9.46 SLC44A1 CHDH
3 phosphatidylcholine biosynthetic process GO:0006656 9.23 SLC44A1 PEMT PCYT1B CHKB
4 phospholipid biosynthetic process GO:0008654 9.13 PEMT PCYT1B CHKB

Sources for Froelich Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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