GBFHS
MCID: BSL041
MIFTS: 19

Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (GBFHS)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

MalaCards integrated aliases for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant:

Name: Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 58 74
Generalized Basaloid Follicular Hamartoma Syndrome 60
Gbfhs 58

Characteristics:

Orphanet epidemiological data:

60
generalized basaloid follicular hamartoma syndrome
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
basaloid follicular hamartoma syndrome, generalized, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 605827
ICD10 via Orphanet 35 Q82.5
UMLS via Orphanet 75 C1853919
Orphanet 60 ORPHA168632
MedGen 43 C1853919
UMLS 74 C1853919

Summaries for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

MalaCards based summary : Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant, also known as generalized basaloid follicular hamartoma syndrome, is related to bazex syndrome and congenital heart defects, hamartomas of tongue, and polysyndactyly. Affiliated tissues include skin, heart and tongue, and related phenotypes are hypohidrosis and papule

Description from OMIM: 605827

Related Diseases for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Diseases related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bazex syndrome 11.5
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
3 basaloid follicular hamartoma 10.5
4 basal cell nevus syndrome 10.2
5 basal cell carcinoma 1 10.2
6 basal cell carcinoma 10.2

Graphical network of the top 20 diseases related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant:



Diseases related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant

Symptoms & Phenotypes for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Human phenotypes related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 33 HP:0000966
2 papule 33 HP:0200034
3 palmar pits 33 HP:0010610
4 hamartoma 33 HP:0010566
5 comedo 33 HP:0025249
6 hypotrichosis of the scalp 33 HP:0004782

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
hypohidrosis
palmar pits
multiple papules (milium-like, comedo-like)
mulitple papules (1-2 mm skin colored and hyperpigmented)
basaloid follicular harmartomas

Skin Nails Hair Hair:
hypotrichosis on scalp

Clinical features from OMIM:

605827

Drugs & Therapeutics for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Search Clinical Trials , NIH Clinical Center for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant

Genetic Tests for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Anatomical Context for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

MalaCards organs/tissues related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant:

42
Skin, Heart, Tongue

Publications for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Articles related to Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant:

# Title Authors Year
1
Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge. ( 30152544 )
2018
2
Generalized basaloid follicular hamartoma syndrome: a case report and review of the literature. ( 24698936 )
2015
3
Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome. ( 19476535 )
2009
4
Generalized basaloid follicular hamartoma syndrome. ( 11568770 )
2001
5
Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. ( 10906638 )
2000

Variations for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Expression for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Search GEO for disease gene expression data for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant.

Pathways for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

GO Terms for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

Sources for Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal...

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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