CANDF1
MCID: CND033
MIFTS: 27

Candidiasis, Familial, 1 (CANDF1)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases

Aliases & Classifications for Candidiasis, Familial, 1

MalaCards integrated aliases for Candidiasis, Familial, 1:

Name: Candidiasis, Familial, 1 57 70
Candidiasis, Familial, 1, Autosomal Dominant 57 13
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, with or Without Thyroid Disease 57
Candf1 57
Cmct 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
candidiasis, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 114580
OMIM Phenotypic Series 57 PS114580
MedGen 41 C2751429
UMLS 70 C2751429

Summaries for Candidiasis, Familial, 1

OMIM® : 57 Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. (114580) (Updated 20-May-2021)

MalaCards based summary : Candidiasis, Familial, 1, also known as candidiasis, familial, 1, autosomal dominant, is related to candidiasis and candidiasis, familial, 8. An important gene associated with Candidiasis, Familial, 1 is CANDF1 (Candidiasis, Familial 1). Affiliated tissues include thyroid, cortex and spinal cord, and related phenotypes are alopecia and abnormality of the endocrine system

Related Diseases for Candidiasis, Familial, 1

Diseases in the Candidiasis family:

Candidiasis, Familial, 1 Candidiasis, Familial, 2
Candidiasis, Familial, 3 Candidiasis, Familial, 4
Candidiasis, Familial, 6 Candidiasis, Familial, 8
Candidiasis, Familial, 9

Diseases related to Candidiasis, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candidiasis 11.1
2 candidiasis, familial, 8 11.0
3 chronic mucocutaneous candidiasis 10.9
4 paraganglioma 9.9
5 charcot-marie-tooth disease 9.9
6 sarcoma 9.9
7 sensory peripheral neuropathy 9.9
8 clear cell sarcoma 9.9
9 spindle cell sarcoma 9.9
10 neuropathy 9.9

Graphical network of the top 20 diseases related to Candidiasis, Familial, 1:



Diseases related to Candidiasis, Familial, 1

Symptoms & Phenotypes for Candidiasis, Familial, 1

Human phenotypes related to Candidiasis, Familial, 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 abnormality of the endocrine system 31 HP:0000818
3 premature loss of teeth 31 HP:0006480
4 chronic mucocutaneous candidiasis 31 HP:0002728
5 recurrent viral infections 31 HP:0004429
6 cutaneous anergy 31 HP:0002965

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hair:
alopecia

Skin:
dermatophytosis

Endocrine:
no associated endocrinopathy

Immunology:
chronic mucocutaneous candidiasis
recurrent viral infections
cutaneous anergy

Teeth:
teeth loss

Clinical features from OMIM®:

114580 (Updated 20-May-2021)

Drugs & Therapeutics for Candidiasis, Familial, 1

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 1

Genetic Tests for Candidiasis, Familial, 1

Anatomical Context for Candidiasis, Familial, 1

MalaCards organs/tissues related to Candidiasis, Familial, 1:

40
Thyroid, Cortex, Spinal Cord, Brain, Globus Pallidus, Spleen, Liver

Publications for Candidiasis, Familial, 1

Articles related to Candidiasis, Familial, 1:

(show top 50) (show all 408)
# Title Authors PMID Year
1
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. 57
16284681 2005
2
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis. 57
12205111 2002
3
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. 57
11517424 2001
4
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis. 57
10445344 1999
5
Riedel's thyroiditis: an autoimmune or primary fibrotic disease? 57
8120524 1994
6
Cimetidine as an immunomodulator: chronic mucocutaneous candidiasis as a model. 57
7352725 1980
7
Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. 57
316285 1979
8
Familial chronic muco-cutaneous candidiasis. 57
4562433 1972
9
Prolonged oral treatment of chronic mucocutaneous candidiasis with Amphotericin B. 57
5120161 1971
10
Immunological observations in chronic mucocutaneous candidiasis. 57
4185535 1969
11
A novel charge derivatization-direct infusion mass spectrometry method for the quantitative analysis of C1-C8 fatty acids in rubber seed oil-based biodiesel. 61
33676663 2021
12
Effects of 10 Hz repetitive transcranial magnetic stimulation of the right dorsolateral prefrontal cortex in the vegetative state. 61
33500699 2021
13
Effect of Lumbar Drainage on Cortical Excitability in Normal Pressure Hydrocephalus. 61
32741415 2021
14
RNA Secondary Structure Study by Chemical Probing Methods Using DMS and CMCT. 61
33792883 2021
15
Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study. 61
33426162 2021
16
Histologically low-grade, yet biologically high-grade, canine cutaneous mast cell tumours: A systematic review and meta-analysis of individual participant data. 61
32103587 2020
17
A cross-sectional comparison of performance, neurophysiological and MRI outcomes of responders and non-responders to fampridine treatment in multiple sclerosis - An explorative study. 61
33317729 2020
18
Central motor conduction time in spinocerebellar ataxia: a meta-analysis. 61
33232267 2020
19
HydraPsiSeq: a method for systematic and quantitative mapping of pseudouridines in RNA. 61
32976574 2020
20
The Effect of Epilepsy and Antiepileptic Drugs on Cortical Motor Excitability in Patients With Temporal Lobe Epilepsy. 61
32969972 2020
21
TMS Correlates of Pyramidal Tract Signs and Clinical Motor Status in Patients with Cervical Spondylotic Myelopathy. 61
33142762 2020
22
Diagnostic Role of Flexion-Extension Central Motor Conduction Time in Cervical Spondylotic Myelopathy. 61
32991514 2020
23
Adjuvant medical therapy provides no therapeutic benefit in the treatment of dogs with low-grade mast cell tumours and early nodal metastasis undergoing surgery. 61
31930651 2020
24
Tagged-particle dynamics in confined colloidal liquids. 61
33075887 2020
25
Application of Machine Learning Using Decision Trees for Prognosis of Deep Brain Stimulation of Globus Pallidus Internus for Children With Dystonia. 61
32849251 2020
26
A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy. 61
32334959 2020
27
Central motor conduction time reveals upper motor neuron involvement masked by lower motor neuron impairment in a significant portion of patients with amyotrophic lateral sclerosis. 61
32593964 2020
28
RNAProbe: a web server for normalization and analysis of RNA structure probing data. 61
32504492 2020
29
Single-pulse transcranial magnetic stimulation in amyotrophic lateral sclerosis. 61
31837153 2020
30
Human Theta Burst Stimulation Combined with Subsequent Electroacupuncture Increases Corticospinal Excitability. 61
33424994 2020
31
Clinical Micro-CT Empowered by Interior Tomography, Robotic Scanning, and Deep Learning. 61
33777595 2020
32
Spinal Cord Infarction: A Single Center Experience and the Usefulness of Evoked Potential as an Early Diagnostic Tool. 61
33192998 2020
33
RNA Remodeling by RNA Chaperones Monitored by RNA Structure Probing. 61
31889258 2020
34
Validation of Quantitative Scores Derived From Motor Evoked Potentials in the Assessment of Primary Progressive Multiple Sclerosis: A Longitudinal Study. 61
32793104 2020
35
RNA Structure Analysis by Chemical Probing with DMS and CMCT. 61
31889260 2020
36
Cervical trans-spinal direct current stimulation: a modelling-experimental approach. 61
31653265 2019
37
Joint assessment of brain and spinal cord motor tract damage in patients with early RRMS: predominant impact of spinal cord lesions on motor function. 61
31175433 2019
38
A sensitive and radiolabeling-free method for pseudouridine detection. 61
31255565 2019
39
A case report of cutaneous melanocytoma with CRTC1-TRIM11 fusion: Is CMCT distinct from clear cell sarcoma of soft tissue? 61
31276279 2019
40
Association Between Cerebral Small Vessel Disease and Central Motor Conduction Time in Patients with Vascular Risk. 61
31208821 2019
41
The interplay between molecular flexibility and RNA chemical probing reactivities analyzed at the nucleotide level via an extensive molecular dynamics study. 61
31145972 2019
42
Effect of the Content of Micro-Active Copper Tailing on the Strength and Pore Structure of Cementitious Materials. 61
31181816 2019
43
Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences. 61
30700578 2019
44
Clinical Utility of Longitudinal Measurement of Motor Threshold in Wilson's Disease. 61
30665472 2019
45
Respiratory electrophysiologic studies in chronic obstructive pulmonary disease. 61
30608443 2019
46
Electrophysiological Assessment and Classification of Motor Pathway Function in Patients With Spinal Dural Arteriovenous Fistula. 61
30308550 2019
47
Detection and Quantification of Pseudouridine in RNA. 61
30539559 2019
48
Changes in Central Motor Conduction Time and Its Implication on Dysfunction of Distal Upper Limb in Distal-Type Cervical Spondylotic Amyotrophy. 61
30608367 2019
49
Assessment of the Corticospinal Tract Profile in Pure Lower Motor Neuron Disease: A Diffusion Tensor Imaging Study. 61
31715609 2019
50
Age, Height, and Sex on Motor Evoked Potentials: Translational Data From a Large Italian Cohort in a Clinical Environment. 61
31214003 2019

Variations for Candidiasis, Familial, 1

Expression for Candidiasis, Familial, 1

Search GEO for disease gene expression data for Candidiasis, Familial, 1.

Pathways for Candidiasis, Familial, 1

GO Terms for Candidiasis, Familial, 1

Sources for Candidiasis, Familial, 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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