GBFHS
MCID: BSL041
MIFTS: 17

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 57 72
Generalized Basaloid Follicular Hamartoma Syndrome 59
Gbfhs 57

Characteristics:

Orphanet epidemiological data:

59
generalized basaloid follicular hamartoma syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
basaloid follicular hamartoma syndrome, generalized, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 605827
ICD10 via Orphanet 34 Q82.5
UMLS via Orphanet 73 C1853919
Orphanet 59 ORPHA168632
MedGen 42 C1853919
UMLS 72 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, and related phenotypes are papule and hypohidrosis

More information 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 11.6
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
3 basaloid follicular hamartoma 10.5
4 basal cell carcinoma 10.4
5 basal cell nevus syndrome 10.3
6 pulmonary alveolar microlithiasis 10.2
7 basal cell carcinoma, infundibulocystic 10.2
8 hypotrichosis 10.2
9 erythrokeratoderma ''en cocardes'' 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 papule 32 HP:0200034
2 hypohidrosis 32 HP:0000966
3 palmar pits 32 HP:0010610
4 hamartoma 32 HP:0010566
5 hypotrichosis of the scalp 32 HP:0004782
6 comedo 32 HP:0025249

Symptoms via clinical synopsis from OMIM:

57
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:

41
Skin

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

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

# Title Authors PMID Year
1
Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. 8
10906638 2000
2
Bcl-2, CD34 and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and neurofollicular hamartoma demonstrate full follicular differentiation. 38
18399809 2008

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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