Palmoplantar Keratoderma and Congenital Alopecia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 1:

Name: Palmoplantar Keratoderma and Congenital Alopecia 1 ⁵⁷ ⁷⁵

Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome ⁵⁷ ⁷⁵

Ppkca, Stevanovic Type ⁵⁷ ⁷⁵

Ppkca1 ⁵⁷ ⁷⁵

Autosomal Dominant Palmoplantar Hyperkeratosis and Congenital Alopecia ⁵⁹

Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia ⁵⁹

Palmoplantar Keratoderma and Congenital Alopecia, Stevanovic Type ⁵⁹

Keratoderma, Palmoplantar, with Congenital Alopecia, Type 1 ⁴⁰

Palmoplantar Keratoderma with Congenital Alopecia ⁵⁷

Ppk-Ca, Stevanovic Type ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal dominant palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy

HPO:

³²

palmoplantar keratoderma and congenital alopecia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 104100

Orphanet ⁵⁹ ORPHA1010

ICD10 via Orphanet ³⁴ Q82.8

UMLS via Orphanet ⁷⁴ C1863093

MedGen ⁴² C3151468 C1863093

MeSH ⁴⁴ D000505 D007645

SNOMED-CT via HPO ⁶⁹ 263681008 706885006 278040002 more

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Summaries for Palmoplantar Keratoderma and Congenital Alopecia 1

OMIM : ⁵⁷ Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by Castori et al., 2010). Also see PPKCA2 (212360), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. (104100)

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 1, also known as keratoderma-hypotrichosis-leukonychia totalis syndrome, is related to autosomal dominant palmoplantar keratoderma and congenital alopecia and palmoplantar keratoderma and congenital alopecia 2. An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 1 is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include skin, and related phenotypes are palmoplantar hyperkeratosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : ⁷⁵ Palmoplantar keratoderma and congenital alopecia 1: A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients.

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Related Diseases for Palmoplantar Keratoderma and Congenital Alopecia 1

Diseases in the Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia family:

Palmoplantar Keratoderma and Congenital Alopecia 1	Palmoplantar Keratoderma and Congenital Alopecia 2
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

Diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	autosomal dominant palmoplantar keratoderma and congenital alopecia	11.2
2	palmoplantar keratoderma and congenital alopecia 2	10.9
3	nail disorder, nonsyndromic congenital, 3	10.5
4	hypotrichosis	10.5
5	leukonychia totalis	10.5

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1:

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Symptoms & Phenotypes for Palmoplantar Keratoderma and Congenital Alopecia 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
palmoplantar keratosis
pigmentary changes on the shins (1 patient)
focal palmoplantar keratoderma on weight-bearing areas
transgradient palmoplantar keratoderma on dorsal hands and feet
hyperkeratosis of perianal areas, auricles, knuckles, knees, and ankles
more

Skin Nails Hair Nails:
leukonychia totalis
dystrophic nails, mild

Skin Nails Hair Skin Histology:
orthohyperkeratosis
follicular plugging
perivascular lymphocytic infiltration in papillary dermis

Skin Nails Hair Hair:
alopecia, congenital
sparse, short, brittle hair on scalp
scant body hair
multiple pits on electron microscopy
cuticular weathering on electron microscopy

Clinical features from OMIM:

104100

Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:

⁵⁹ ³² (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	palmoplantar hyperkeratosis ⁵⁹ ³²		Very frequent (99-80%)	HP:0000972
2	palmoplantar keratoderma ⁵⁹		Very frequent (99-80%)
3	alopecia ³²			HP:0001596
4	nail dysplasia ³²			HP:0002164
5	abnormality of skin pigmentation ³²	very rare (1%)		HP:0001000
6	fingernail dysplasia ⁵⁹		Frequent (79-30%)
7	congenital alopecia totalis ⁵⁹		Very frequent (99-80%)
8	dystrophic fingernails ³²			HP:0008391

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Drugs & Therapeutics for Palmoplantar Keratoderma and Congenital Alopecia 1

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma and Congenital Alopecia 1

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Genetic Tests for Palmoplantar Keratoderma and Congenital Alopecia 1

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Anatomical Context for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 1:

⁴¹

Skin

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Publications for Palmoplantar Keratoderma and Congenital Alopecia 1

Articles related to Palmoplantar Keratoderma and Congenital Alopecia 1:

#	Title	Authors	Year
1	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )	Wang H....Yang Y.	2015
2	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 25168385 )	Wang H....Yang Y.	2014

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Genes for Palmoplantar Keratoderma and Congenital Alopecia 1

Genes related to Palmoplantar Keratoderma and Congenital Alopecia 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1578.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	25168385

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Variations for Palmoplantar Keratoderma and Congenital Alopecia 1

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	GJA1	p.Gly8Val	VAR_075754	rs864309644

ClinVar genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GJA1	NM_000165.4(GJA1): c.23G> T (p.Gly8Val)	single nucleotide variant	Pathogenic	rs864309644	GRCh37	Chromosome 6, 121768016: 121768016
2	GJA1	NM_000165.4(GJA1): c.23G> T (p.Gly8Val)	single nucleotide variant	Pathogenic	rs864309644	GRCh38	Chromosome 6, 121446870: 121446870

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Expression for Palmoplantar Keratoderma and Congenital Alopecia 1

Search GEO for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 1.

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Pathways for Palmoplantar Keratoderma and Congenital Alopecia 1

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GO Terms for Palmoplantar Keratoderma and Congenital Alopecia 1

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Sources for Palmoplantar Keratoderma and Congenital Alopecia 1

¹ BioSystems

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³⁶ IUPHAR

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³⁸ LifeMap

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)

Aliases & Classifications for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 1

Related Diseases for Palmoplantar Keratoderma and Congenital Alopecia 1

Diseases in the Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia family:

Diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1:

Symptoms & Phenotypes for Palmoplantar Keratoderma and Congenital Alopecia 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:

Drugs & Therapeutics for Palmoplantar Keratoderma and Congenital Alopecia 1

Genetic Tests for Palmoplantar Keratoderma and Congenital Alopecia 1

Anatomical Context for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 1:

Publications for Palmoplantar Keratoderma and Congenital Alopecia 1

Articles related to Palmoplantar Keratoderma and Congenital Alopecia 1:

Genes for Palmoplantar Keratoderma and Congenital Alopecia 1

Genes related to Palmoplantar Keratoderma and Congenital Alopecia 1 (1 elite genes):

Variations for Palmoplantar Keratoderma and Congenital Alopecia 1

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

ClinVar genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

Expression for Palmoplantar Keratoderma and Congenital Alopecia 1

Pathways for Palmoplantar Keratoderma and Congenital Alopecia 1

GO Terms for Palmoplantar Keratoderma and Congenital Alopecia 1

Sources for Palmoplantar Keratoderma and Congenital Alopecia 1