Format
Items per page

Send to:

Choose Destination

Search results

Items: 16

  • Wrong UID 505093
1.

Tuberous sclerosis 1

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GeneReviews]

MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
2.

Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
375107
Concept ID:
C1843153
Disease or Syndrome
3.

Rheumatoid arthritis

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
4.

Beaded hair

Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006). [from OMIM]

MedGen UID:
108185
Concept ID:
C0546966
Congenital Abnormality
5.

Visceral heterotaxy 5, autosomal

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
6.

Pseudotrisomy 13 syndrome

Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE. [from GeneReviews]

MedGen UID:
340382
Concept ID:
C1849649
Disease or Syndrome
7.

Blue rubber bleb nevus

A hemangioma present at birth. It is characterized by the presence of rubbery skin lesions. [from NCI]

MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
8.

Polyglandular autoimmune syndrome, type 2

Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1). [from OMIM]

MedGen UID:
39126
Concept ID:
C0085860
Disease or Syndrome
9.

Hydroxykynureninuria

MedGen UID:
78681
Concept ID:
C0268474
Congenital Abnormality; Disease or Syndrome
10.

Thymic-Renal-Anal-Lung dysplasia

MedGen UID:
336425
Concept ID:
C1848812
Disease or Syndrome
11.

Congenital fascial dystrophy

MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality; Disease or Syndrome
12.

Idiopathic pulmonary hemosiderosis

MedGen UID:
9403
Concept ID:
C0020807
Disease or Syndrome
13.

Microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs

MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
14.

Metaphyseal chondrodysplasia, kaitila type

MedGen UID:
344446
Concept ID:
C1855217
Disease or Syndrome
15.

Pulmonary nodular lymphoid hyperplasia, familial

MedGen UID:
401226
Concept ID:
C1867419
Disease or Syndrome
16.

Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome

MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center