ALPC
MCID: ALP099
MIFTS: 23

Alopecia, Congenital (ALPC)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Alopecia, Congenital

MalaCards integrated aliases for Alopecia, Congenital:

Name: Alopecia, Congenital 57
Congenital Alopecia 54 32
Alpc 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
alopecia, congenital:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 300042
ICD10 32 Q84.0
MedGen 41 C0265992

Summaries for Alopecia, Congenital

MalaCards based summary : Alopecia, Congenital, also known as congenital alopecia, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and palmoplantar keratoderma and congenital alopecia 1. An important gene associated with Alopecia, Congenital is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor). Affiliated tissues include skin, thyroid and bone marrow, and related phenotypes are alopecia and sparse hair

More information from OMIM: 300042

Related Diseases for Alopecia, Congenital

Diseases in the Alopecia family:

Alopecia, Congenital

Diseases related to Alopecia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.9
2 palmoplantar keratoderma and congenital alopecia 1 11.8
3 palmoplantar keratoderma and congenital alopecia 2 11.7
4 focal alopecia congenital megalencephaly 11.0
5 thumb deformity, alopecia, pigmentation anomaly 11.0
6 alopecia areata 10.1
7 alopecia universalis congenita 10.1
8 palmoplantar keratosis 10.0
9 autoimmune lymphoproliferative syndrome 10.0
10 gastric adenocarcinoma 10.0
11 hypotrichosis, congenital, with juvenile macular dystrophy 9.9
12 marie unna congenital hypotrichosis 9.9
13 alopecia-epilepsy-oligophrenia syndrome of moynahan 9.9
14 autosomal recessive disease 9.9
15 keratosis 9.9
16 ectodermal dysplasia 9.9
17 hypotrichosis 9.9
18 alopecia 9.9
19 ainhum 9.8
20 coloboma of macula 9.8
21 hemifacial microsomia 9.8
22 osteoporosis 9.8
23 hutchinson-gilford progeria syndrome 9.8
24 chromosome 2q35 duplication syndrome 9.8
25 alopecia-mental retardation syndrome 1 9.8
26 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8
27 leprosy 3 9.8
28 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 9.8
29 arthrogryposis and ectodermal dysplasia 9.8
30 gomez-lopez-hernandez syndrome 9.8
31 langerhans cell histiocytosis 9.8
32 bone mineral density quantitative trait locus 8 9.8
33 encephalocraniocutaneous lipomatosis 9.8
34 bone mineral density quantitative trait locus 15 9.8
35 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 9.8
36 ifap syndrome 2 9.8
37 sensorineural hearing loss 9.8
38 microcephaly 9.8
39 ichthyosis 9.8
40 lipomatosis 9.8
41 histiocytosis 9.8
42 mastocytosis 9.8
43 impetigo 9.8
44 hidrotic ectodermal dysplasia 2 9.8
45 carcinoid syndrome 9.8
46 craniofacial microsomia 9.8
47 erythrokeratoderma ''en cocardes'' 9.8
48 hansen's disease 9.8
49 ichthyosis follicularis atrichia photophobia syndrome 9.8
50 pseudoainhum 9.8

Graphical network of the top 20 diseases related to Alopecia, Congenital:



Diseases related to Alopecia, Congenital

Symptoms & Phenotypes for Alopecia, Congenital

Human phenotypes related to Alopecia, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 sparse hair 31 HP:0008070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hair:
congenital scalp alopecia
marked hypotrichosis
normal eyebrows and eyelashes

Clinical features from OMIM®:

300042 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alopecia, Congenital

Search Clinical Trials , NIH Clinical Center for Alopecia, Congenital

Genetic Tests for Alopecia, Congenital

Anatomical Context for Alopecia, Congenital

MalaCards organs/tissues related to Alopecia, Congenital:

40
Skin, Thyroid, Bone Marrow, Bone, Heart, Salivary Gland, Tongue

Publications for Alopecia, Congenital

Articles related to Alopecia, Congenital:

(show top 50) (show all 93)
# Title Authors PMID Year
1
X-linked recessive inheritance in a family with isolated congenital alopecia. 61 57
8569404 1996
2
The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. 54 61
11966690 2002
3
Development of the Nude Rabbit Model. 61
33606990 2021
4
Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice. 61
33470013 2021
5
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis. 61
32901930 2020
6
Nevus psiloliparus: Newly described histopathological features from transverse sections. 61
32034785 2020
7
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease. 61
31817921 2019
8
Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations. 61
31414503 2019
9
[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. 61
30922549 2019
10
X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities. 61
31122682 2019
11
Congenital symmetrical circumscribed patterned non-scarring alopecia of eyebrows: a variant of congenital triangular alopecia or an anatomical variation? 61
31129634 2019
12
Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. 61
30809564 2019
13
Connexin43 mutations linked to skin disease have augmented hemichannel activity. 61
30631135 2019
14
Congenital alopecia of eyebrow. 61
30289112 2018
15
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. 61
29851065 2018
16
Childhood alopecia areata-Data from the National Alopecia Areata Registry. 61
29334143 2018
17
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. 61
28932937 2017
18
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 61
28636882 2017
19
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. 61
28839389 2017
20
A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents. 61
28791288 2017
21
FOXN1 deficient nude severe combined immunodeficiency. 61
28077132 2017
22
Hair diseases: a big problem on a small surface. 61
27881935 2016
23
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. 61
27339777 2016
24
Concomitance of Goldenhar Syndrome with Congenital Alopecia Areata. 61
29485831 2016
25
Alopecia in four kittens caused by abnormal maternal licking behaviour. 61
26503537 2015
26
Congenital lipedematous alopecia: adding to the differential diagnosis of congenital alopecia. 61
25673939 2015
27
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 61
25516398 2015
28
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 61
25168385 2015
29
Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome. 61
24070220 2014
30
Diagnosis and management of alopecia in children. 61
24636654 2014
31
Role of trichoscopy in children's scalp and hair disorders. 61
23937326 2013
32
Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. 61
23522427 2013
33
FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program. 61
23874334 2013
34
Congenital atrichia associated with situs inversus and mesocardia. 61
23180933 2012
35
Cutaneous mastocytosis associated with congenital alopecia. 61
22356916 2012
36
Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex". 61
22247078 2012
37
[Conradi-Hünermann-Happle syndrome]. 61
22394443 2012
38
[Alopecia, congenital ichthyosis, and growth delay, what is the diagnosis?]. 61
21036561 2010
39
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 61
20635335 2010
40
A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. 61
20055849 2009
41
Human clinical phenotype associated with FOXN1 mutations. 61
20429426 2009
42
The hairless mouse in skin research. 61
18938063 2009
43
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 61
18339010 2008
44
Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A). 61
17827792 2007
45
Gomez-Lopez-Hernandez syndrome: another consideration in focal congenital alopecia. 61
17489973 2007
46
An overview on congenital alopecia in domestic animals. 61
17083571 2006
47
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. 61
16922726 2006
48
Congenital alopecia areata. 61
15692503 2005
49
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 61
15180707 2004
50
Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3. 61
15149494 2004

Variations for Alopecia, Congenital

Expression for Alopecia, Congenital

Search GEO for disease gene expression data for Alopecia, Congenital.

Pathways for Alopecia, Congenital

GO Terms for Alopecia, Congenital

Sources for Alopecia, Congenital

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