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Items: 1 to 20 of 25

1.

Pain

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
2.

Anhidrosis, familial generalized, with abnormal or absent sweat glands

MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
3.

Anhidrosis

MedGen UID:
504668
Concept ID:
CN000908
Finding
4.

Hereditary insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common. [from GeneReviews]

MedGen UID:
6915
Concept ID:
C0020074
Disease or Syndrome
5.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Hyperhidrosis

MedGen UID:
11680
Concept ID:
C0038990
Finding
7.

Fever

MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
8.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
9.

Intellectual functioning disability

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
10.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
11.

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
12.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
13.

Hyphidrosis

MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
14.

Disorder of skin

A disorder involving lesions or eruptions of the skin, usually without inflammation. [from NCI]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
15.

Peripheral neuropathy

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
16.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
17.

Disorder of sweat gland

An abnormality of the sweat gland. [from HPO]

MedGen UID:
11679
Concept ID:
C0038986
Disease or Syndrome
18.

Neuromuscular Diseases

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
19.

Disease

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
20.

Congenital Indifference to Pain

MedGen UID:
1899
Concept ID:
C0002768
Disease or Syndrome
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