MCID: KRT065
MIFTS: 18

Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

MalaCards integrated aliases for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:

Name: Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 56
Keratosis Follicularis Dwarfism and Cerebral Atrophy 52 29
Dwarfism, Cerebral Atrophy and Generalized Keratosis Follicularis 52
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked


HPO:

31
keratosis follicularis, dwarfism, and cerebral atrophy:
Inheritance x-linked inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


External Ids:

OMIM 56 308830
MESH via Orphanet 44 C536158
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1839910
Orphanet 58 ORPHA2339
MedGen 41 C1839910

Summaries for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2339 Definition A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability , inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratosis Follicularis, Dwarfism, and Cerebral Atrophy, also known as keratosis follicularis dwarfism and cerebral atrophy, is related to darier-white disease and keratosis. Affiliated tissues include skin, and related phenotypes are absent eyelashes and absent eyebrow

More information from OMIM: 308830

Related Diseases for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Diseases related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 darier-white disease 10.4
2 keratosis 10.4
3 dwarfism 10.4
4 cerebral atrophy 10.4

Symptoms & Phenotypes for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Human phenotypes related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000561
2 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
3 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
4 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
5 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
6 generalized keratosis follicularis 58 31 frequent (33%) Frequent (79-30%) HP:0007439

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly

Skin:
generalized keratosis follicularis

Growth:
severe congenital proportionate dwarfism

Neuro:
cerebral atrophy

Misc:
early death

Hair:
absent hair, eyebrows and eyelashes

Clinical features from OMIM:

308830

Drugs & Therapeutics for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Search Clinical Trials , NIH Clinical Center for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Genetic Tests for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Genetic tests related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:

# Genetic test Affiliating Genes
1 Keratosis Follicularis Dwarfism and Cerebral Atrophy 29

Anatomical Context for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

MalaCards organs/tissues related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:

40
Skin

Publications for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Articles related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:

# Title Authors PMID Year
1
A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis. 61 56
4834251 1974

Variations for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Expression for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Search GEO for disease gene expression data for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy.

Pathways for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

GO Terms for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

Sources for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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