Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 10

1.

Hereditary palmoplantar keratoderma

Hyperkeratosis affecting the palm of the hand and the sole of the foot. [from HPO]

MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
2.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
3.

Palmoplantar keratoderma

MedGen UID:
400147
Concept ID:
C1862859
Finding
4.

Partial deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
5453
Concept ID:
C0018772
Finding
5.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
6.

Sensorineural hearing loss

Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. [from MeSH]

MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
7.

Hearing problem

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [from MeSH]

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
8.

Diffuse palmoplantar keratoderma

An inherited disorder characterized by the development of keratotic lesions on the palms and soles. It appears in childhood as redness on the palms and soles which progresses to well demarcated, thickened, yellowish and waxy lesions. [from NCI]

MedGen UID:
7201
Concept ID:
C0022584
Congenital Abnormality; Disease or Syndrome
9.

Palmoplantar keratoderma, nonepidermolytic

MedGen UID:
371463
Concept ID:
C1833030
Disease or Syndrome
10.

Epidermolytic palmoplantar keratoderma

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar Keratoderma Nonepidermolytic palmoplantar keratoderma (NEPPK; 600962) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1; 613000) is caused by mutation in the KRT16 gene (148067). Another focal form, FNEPPK2 (616400), is caused by mutation in the TRPV3 gene (607066); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; 614594), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB; 600231) is caused by mutation in the AQP5 gene (600442). The Nagashima type of nonepidermolytic diffuse PPK (PPKN; 615598) is caused by mutation in the SERPINB7 gene (603357). A generalized form of epidermolytic hyperkeratosis (EHK; 113800), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (148080). For a discussion of punctate PPK, see 148600; for a discussion of striate PPK, see 148700. [from OMIM]

MedGen UID:
354561
Concept ID:
C1721006
Congenital Abnormality; Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center