MCID: ICH012
MIFTS: 14

Ichthyosis Hystrix Gravior

Categories: Skin diseases

Aliases & Classifications for Ichthyosis Hystrix Gravior

MalaCards integrated aliases for Ichthyosis Hystrix Gravior:

Name: Ichthyosis Hystrix Gravior 56
Ichthyosis, Lambert Type 56
Porcupine Man 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ichthyosis hystrix gravior:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 146600
MedGen 41 C0432311
SNOMED-CT via HPO 68 263681008

Summaries for Ichthyosis Hystrix Gravior

OMIM : 56 Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization are known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix (146590), concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior, only rudimentary tonofilaments are found with compensatory production of mucous granules. Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized and ichthyosis hystrix when localized. (146600)

MalaCards based summary : Ichthyosis Hystrix Gravior, also known as ichthyosis, lambert type, is related to ichthyosis hystrix, curth-macklin type and ichthyosis. Affiliated tissues include skin, and related phenotype is ichthyosis.

Related Diseases for Ichthyosis Hystrix Gravior

Diseases related to Ichthyosis Hystrix Gravior via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis hystrix, curth-macklin type 11.7
2 ichthyosis 10.7
3 keratosis 10.6
4 epidermolytic hyperkeratosis 10.4
5 branchiootic syndrome 1 10.4
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 papilloma 10.4
8 autosomal dominant epidermolytic ichthyosis 10.4

Graphical network of the top 20 diseases related to Ichthyosis Hystrix Gravior:



Diseases related to Ichthyosis Hystrix Gravior

Symptoms & Phenotypes for Ichthyosis Hystrix Gravior

Human phenotypes related to Ichthyosis Hystrix Gravior:

31
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 HP:0008064

Symptoms via clinical synopsis from OMIM:

56
Skin:
ichthyosis hystrix gravior

Clinical features from OMIM:

146600

Drugs & Therapeutics for Ichthyosis Hystrix Gravior

Search Clinical Trials , NIH Clinical Center for Ichthyosis Hystrix Gravior

Genetic Tests for Ichthyosis Hystrix Gravior

Anatomical Context for Ichthyosis Hystrix Gravior

MalaCards organs/tissues related to Ichthyosis Hystrix Gravior:

40
Skin

Publications for Ichthyosis Hystrix Gravior

Articles related to Ichthyosis Hystrix Gravior:

# Title Authors PMID Year
1
Reconsideration of the Lambert pedigree (ichthyosis hystrix gravior). 61 56
13534212 1958
2
Electron microscopy in the early diagnosis of genetic disorders of the skin. 56
78862 1978
3
The ichthyoses. 56
935508 1976
4
Epidermolytic Hyperkeratosis with Club Foot Deformity. 61
28145389 1987
5
[A case of ichthyosis hystrix gravior unilateralis - clinical and morphological data (author's transl)]. 61
7293299 1981
6
[Ichthyosis hystrix gravior typus Rheydt: an otologic-dermatologic syndrome (author's transl)]. 61
145534 1977
7
Ichthyosis hystrix of 'porcupine man' type. Report of a case. 61
1225655 1975
8
Vitamin A in the treatment of maleformatio ectodermalis generalisata--"porcupine man". 61
4162942 1966

Variations for Ichthyosis Hystrix Gravior

Expression for Ichthyosis Hystrix Gravior

Search GEO for disease gene expression data for Ichthyosis Hystrix Gravior.

Pathways for Ichthyosis Hystrix Gravior

GO Terms for Ichthyosis Hystrix Gravior

Sources for Ichthyosis Hystrix Gravior

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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